Outer Canthal Distance Research Articles

Canthal and Cephalic and Indexes of Children with Homozygous Sickle Cell Disease in Port-Harcourt

This research was conducted in view of the importance of anthropmetric indices of the head and face in forensic medicine, surgery, paediatrics and medical imaging. this study was put forward to determine some of the effects of chronic diseases on head and face of children with homozygous sickle cell disease. A comparative study on canthal and cephalic indexes were carried on 100 patients, 54 male and 46 females who are homozygous for sickle cell anaemia, who attended the sickle cell clinic at the University of Port Harcourt Teaching Hospital between the ages of 3-17years. The same was done for 500 growing children, 291 males and 209 females between 3-17years. The head length, head breadth, inner and outer canthal distances were measured. the results showed a mean cephalic index value of 79.89± 0.87 for the normal growing children while that of the sickle cell children was 79.54± 2.14 which is not statistically significant (p>0.05). The mean canthal index for healthy children was 35.16±1.01 as against 37.28±1.65 for sickle cell children, which is statistically significant. This result determined the possible effects of chronic diseases such as sickle cell anaemia on the diversity of head and face shapes in children.

Anthropometric Analysis of Palpebral Fissure Dimensions and its Position in South Indian Ethnic Adults

The morphology and anatomical relationship of periorbital features vary according to age, sex and ethnicity. Standard database regarding periorbital region is available for other ethnic groups. Since there is no data available in the literature, specifically for south Indian ethnic adults, the present study was carried out to determine the normal average values for South Indian ethnic population related to gender. Anthropometric measurements of both eyes were done on standardized frontal view photograph of 200 South Indian ethnic adults aged 18 to 26 years. Parameters included were palpebral fissure width (PFW), palpebral fissure height (PFH), palpebral fissure inclination (PFI), outercanthal distance (OCD), interpupillary distance (IPD), intercanthal distance (ICD) and comparisons were made between the genders using the independent t test. Significant sexual dimorphism was noted in the given parameters. Palpebral fissure width (male: 31.08 mm; female: 29.90 mm), palpebral fissure inclination (male: 5.053°; female: 6.102°), outercanthal distance (male: 95.55 mm; female: 92.44 mm) and interpupillary distance (male: 66.72 mm; female: 62.59 mm). The palpebral fissure height (male: 11.30 mm; female: 11.58 mm) and intercanthal distance (male: 34.27 mm; female: 33.41 mm) showed no significant sexual differences. Statistically significant differences were found between South Indian ethnic males and female in certain key parameters. The present study suggests that ethnicity and gender should be considered in orbital surgery. To individualize the treatment planning and diagnosis, it is important for the surgeons to have knowledge of these local norms.

Association between gender, age and palpebral dimensions/exophthalmometric values among Nigerians of Ido local government area of Oyo State, Nigeria

Background: Knowledge of factors that could affect exophthalmometric and palpebral's measurement are important in clinical for the correct interpretation of these parameters. Among these factors are age and sex. Aims and Objectives: The objective of this study is to describe the relationship between gender, age and palpebral dimensions/exophthalmometric values (EV) among Nigerian. Materials and Methods: In a descriptive cross -sectional survey, EV and palpebral dimensions were measured in 1020 eligible and consented adults Nigerians using Hertel's exophthalmometer and non -stretchable plain plastic ruler respectively. Results: The studied population comprised of 1020 subjects including 515 females and 505 males. In the male subjects, the mean (mm) palpebral fissure width, palpebral fissure height, upper eyelid crease, margin reflex distance, lateral canthal distance, medial canthal distance, inter inner canthal distance and inter outer canthal distance were; 32.6 ± 2.8, 8.3 ± 1.4, 6.9 ± 1.6, 3.2 ± 1.2, 12.8 ± 2.0, 10.1 ± 0.9, 39.9 ± 3.2, 99.5 ± 5.6 respectively. Males had a significantly higher EV compared with females (15.5 ± 2.5 mm vs. 15.1 ± 2.4 mm, P = 0.0005). Conclusion: In this study, we described the relationship between gender, age and EV/palpebral dimension in African population. The knowledge of this relationship is valuable in the early diagnosis of the eyelid and orbital diseases, manufacturing of spectacles as well as achieving a satisfactory cosmetic eyelid surgery.

Orbito-Ocular Soft Tissue Measurements in Young Adults—An Indigenous Negro Population Study

Aim: This study was named at determining normal orbital soft tissue parameters in young adults in an indigenous black population.Methodology: Prospective study on consentimg young adults in a Nigerian University with no previous orbito-facial trauma/surgery, strabismus, ptosis, telecanthus, and history of neurological diseases or previous ocular trauma were excluded. The age, sex and height of each participant were recorded. With the aid of a manual Sliding Vernier Caliper, the inner canthal distance (ICD), outer canthal distance (OCD), right horizontal palpebrae fissure length (RHPFL), left horizontal palpebrae fissure length (LHPFL). The results were imputed, analyzed and reported as simple frequency, means and standard deviations using the SPSS version 11 and statistical significant accepted at P < 0.05.Results: Two hundred and four of participants of which 136 (66.7%) were males constituted the study population. Their ages ranged between 17–38 years with a mean and standard deviation of 23.6 ± 3.2 years. Their height ranged from 1.43–1.94 m with a mean and standard deviation of 1.70 ± 0.81 m. The mean and standard deviation for OCD, ICD, RHPFL and LHPFL were 99.6 ± 5.5 mm, 36.5 ± 3.3 mm, 32.5 ± 1.8 mm and 31.7 ± 1.9 mm, respectively. The range and mean ICD (28.2–45.4 mm and 36.5 mm) is greater than the range and mean palpebrae fissure lengths in either eye. Statistcally significant gender based differences were recorded in the mean OCD and ICD with higher values in in males.Conclusion: Normal soft tissue orbit-ocular parameters are presented for young adults in the population showing statistically significant mean larger values for males compared with female subjects.

Photogrammetric analysis of palpebral fissure dimensions and its position in Malaysian south Indian ethnic adults by gender

Background:Anthropometric data describing the palpebral fissure and its position is available for various populations. Unfortunately there is no data available for Malaysian South Indian.Aim:The present study was undertaken to determine the normative values for Malaysian South Indian according to gender.Materials and Methods:Anthropometric measurement was done on standardized photographs taken from 300 MSI aged 18-26 years. The parameters were measured using computerized software.Results:Significant sexual difference was observed in all parameters except canthal index, which includes palpebral fissure width (male, 30.9 mm; female, 29.62 mm), palpebral fissure height (male, 11.06 mm; female, 11.48 mm), palpebral fissure inclination (male, 4.72°; female, 7.04°), outercanthal distance (male, 97.15 mm; female, 91.78 mm), interpupillary distance (male, 68.09 mm; female, 63.6 mm), intercanthal distance (male, 34.1 mm; female, 32.77 mm), and canthal index (male, 35.22 mm; female, 35.86±4.44 mm).Conclusions:Sexual dimorphism was found in all parameters. Comparison of our results with other studies revealed the variation and similarities in key parameters. Establishing normative values and understanding the facial morphology of different ethnic groups is important in designing the treatment planning for an aesthetic oculoplastic procedure.

Investigation of Anthropometric Measurements of Anatomic Structures of Orbital Soft Tissue in 102 Young Han Chinese Adults

The aim is to measure and investigate the anatomic structures of orbital soft tissue and the relationships between the adjacent regions in 102 normal young Han Chinese adults using a computer-assisted photography system to provide reference data for periocular cosmetic and reconstructive surgery. A random sample of 102 Han young Chinese adults (53 males and 49 females) aged from 18 to 25 years in Changsha, Hunan Province, was obtained. Standard digital images were taken and then processed using Image-Pro Plus 6.0 software. The linear and angular measurements, including intercanthal distance, outer canthal distance, palpebral fissure width (PFW), palpebral fissure height (PFH), orbit height (OH), upper lid height, lower lid height, nasal eyebrow height, central eyebrow height, temporal eyebrow height, reference line to lateral canthus'inclination of palpebral fissure, were measured. The proportional indices, including intercanthal distance/outer canthal distance, PFH/PFW, PFH/OH, OH/PFW, upper lid height/OH, lower lid height/OH, nasal eyebrow height/OH, central eyebrow height/OH, and temporal eyebrow height/OH, were investigated. Means and standard deviations of all the items had been obtained and differences between male and female subjects were assessed. The normal measurement values of anatomic structures of orbital soft tissue and the proportional indices for normal young Han Chinese adults provided reference data for periorbital cosmetic and reconstructive surgery.

Age dependant somatometric and cephalometric variables among Nigerians.

Background: The process of growth passes through stages of developmental processes. This stage is the age. Age is known to affect many parameters in the body and this includes somatometric and cephalometric variables. Methods: The study was conducted with a total number of 409 students of university of Jos, St Murumba and School of Higher Islamic Secondary School Jos. The following cephalometric and somatometric parameters were measured viz; Age, Weight, Height, Head width, Bizygomatic distance, Upper facial height, Outer canthal distance, Palpebral fissure length,Exaphthalmometric value, Ear width, Nose width were measured. Result: This study showed a positive relationship between age and weight, height, outer canthal distance, papebral fissure length, exophthalmometric value, nose width, bizygomatic distance (p 0.01) and head width (p 0.05). But it showed a negative significant relationship with ear width and upper facial length (p 0.01). Conclusion: It is concluded that the interrelation of age and the above studied somatometric and cephalometric parameters may give an understanding of craniofacial development and congenital anomalies. Key words: Age, Somatometric, Cephalometric.

Ocular and Orbital Manifestations of the Inherited Bone Marrow Failure Syndromes: Fanconi Anemia and Dyskeratosis Congenita

The inherited bone marrow failure syndromes (IBMFS) are a heterogeneous group of genetic disorders that share the inability of the bone marrow to produce an adequate number of blood cells. The 4 most frequent syndromes are Fanconi anemia (FA), dyskeratosis congenita (DC), Diamond-Blackfan anemia (DBA), and Shwachman-Diamond syndrome (SDS). All 4 syndromes have been associated with various physical abnormalities. As part of a genotype/phenotype/cancer susceptibility study, we determined the prevalence of ophthalmic manifestations in these 4 syndromes. Cross-sectional study of a patient cohort. Seventy-five patients with an IBMFS and 121 of their first-degree relatives were seen in the National Eye Institute, National Institutes of Health, from 2001 to 2007. The patient group included 22 with FA, 28 with DC, 19 with DBA, and 6 with SDS. Every participant underwent a complete ophthalmic evaluation and digital facial photography with an adhesive paper ruler on the patient's forehead for an internal measure of scale. Interpupillary distance (IPD), inner canthal distance (ICD), outer canthal distance (OCD), palpebral fissure length (PFL), and corneal diameter (CD) were measured. Thirteen of the 22 patients with FA underwent axial length (AL) measurements by A-scan ultrasonography. Type and prevalence of ophthalmic manifestations. Ninety-five percent of patients with FA had at least 1 abnormal parameter, and 25% of patients had at least 4 abnormal parameters. Eighty-two percent of patients had small palpebral fissures, 69% of patients had simple microphthalmia, 64% of patients had small OCD, 55% of patients had microcornea, 28% of patients had ptosis, and 6% of patients had epicanthal folds. In patients with DC, abnormalities of the lacrimal drainage system (29%) were the most prevalent findings, followed by retinal abnormalities (pigmentary changes, retinal neovascularization, retinal detachment, exudative retinopathy) in 21%, cicatricial entropion with trichiasis and blepharitis in 7% each, and sparse eyelashes and congenital cataract in 3.5% each. No significant ophthalmic abnormalities were seen in patients with DBA or SDS. Syndrome-specific ocular findings are associated with FA and DC and may antedate diagnosis of the specific syndrome. Early recognition of these abnormalities is important for optimal management.

The First Single Center Phenotypic Comparison of Fanconi Anemia, Dyskeratosis Congenita, Diamond-Blackfan Anemia, and Shwachman- Diamond Syndrome: The NCI IBMFS Cohort.

Inherited bone marrow failure syndromes (IBMFS) comprise a group of heterogeneous genetic disorders characterized by single or multilineage cytopenias, distinctive clinical features, and an increased risk of specific malignancies, with considerable overlap in hematologic and physical manifestations. Our objective was to identify specific distinguishing features for each of the major IBMFS by identical systematic evaluations, in the first comparison of all 4 disorders in a single center. Participants were: 23 with Fanconi anemia (FA), 32 with dyskeratosis congenita (DC), 23 with Diamond-Blackfan anemia (DBA) and 7 with Shwachman-Diamond syndrome (SDS). Evaluations included physical characteristics, hematologic data, and abnormalities of the skeletal, ophthalmic, otologic, renal, cardiac, central nervous system (CNS) and endocrine systems. We found a similar frequency of cytopenias (~80%) in all disorders; predominantly multilineage in FA and DC, anemia in DBA, and neutropenia in SDS. 50% of FA patients had clonal marrow cytogenetic abnormalities, of whom 24% had morphologic myelodysplastic syndrome (MDS); 25% of DC patients had clones of whom one had MDS; none with DBA had a clone or MDS; and 4/7 with SDS had clones [i(7)q in one, del(20)q in two, i(X)p in one] but no MDS. Skeletal malformations were frequent in patients with FA (68%). Anomalies unique to FA were radial ray defects (thumb or thumb and radius) in 45%, Klippel-Feil Syndrome in 45%, and fused or partial ribs in 25%. No specific defects were seen in patients with DC or DBA. 3/7 patients with SDS had metaphyseal dysplasia. 80% of FA patients had smaller than normal eye measurements, including one or more of outer canthal distance, inner canthal distance, palpebral fissure length or interpupillary distance, compared with age and sex-matched published controls, unaffected family members and patients with other IBMFS; 75% had small eyes by A-scan and 60% had microcorneas. ~15% of patients with DC, DBA and SDS had small palpebral fissure lengths but no microcorneas. Eye findings unique to DC were lacrimal duct stenosis in 27%, exudative retinopathy in one and proliferative retinopathy with retinal neovascularization in two. Hearing was decreased only in FA, in 65%, associated with abnormalities of tympanic membrane bony island and/or short malleus, with conductive hearing loss in 40%. 40% of FA patients had renal anomalies vs. 3% with DC, 8% with DBA and none with SDS. Congenital cardiac defects were more frequent in patients with DBA (40%) than in those with FA (15%), DC (3%) or SDS (none). 50% of patients with FA, 25% with DBA and 5/7 patients with SDS had short stature (height Z-score <2SD) and microcephaly, whereas in DC only 3% had short stature, and 38% had microcephaly without short stature. Only patients with FA and DC had abnormal brain MRIs: 27% of FA patients had absent corpus callosum and/or septum pellucidum, and 57% had a small pituitary; 38% of DC patients had cerebellar hypoplasia and associated microcephaly, developmental/speech delay and ataxia. 56% of DC patients had at least two features of the diagnostic triad (nail dystrophy, oral leukoplakia, and lacey skin pigmentation). Endocrine abnormalities which were common in FA [hypothyroidism (35%), growth hormone deficiency (25%) and hypogonadism (>90% adults)] were rare in the other IBMFS. However, 90% of the patients with FA, 27% with DC, and 60% with DBA and SDS had reduced bone mineral density on Dexa scan. In this first direct, single center comparison of the 4 major IBMFS, we identified: skeletal anomalies, small eyes, abnormal hearing and endocrine deficiencies in FA; high rates of cardiac defects in DBA; CNS anomalies in FA and DC; microcephaly in all disorders; and reduced bone mineral density in all 4 disorders but highest in FA. Thus, comprehensive systematic investigations detected unique syndrome-specific abnormalities in much higher frequencies than expected based on literature reports. These findings have important clinical consequences and warrant early intervention.

A de novo 6p interstitial deletion and a complex translocation involving chromosomes 2, 6, and 14 in a mildly developmentally delayed patient

Constitutional complex chromosome rearrangements (CCRs) involve two or more breakpoints with exchange of segments among at least two chromosomes [Pai et al., 1980]. A combined technical approach (G banding, aCGH, and FISH) documented a de novo CCR in our patient. The patient was born at term with normal birth weight after an uneventful pregnancy. He has healthy, nonconsanguineous parents (the mother was 35, the father 38 years old), and healthy siblings. As a baby he was quiet and slept excessively. He walked at 15 months. At 3 years he was referred for a chromosome analysis because of global delayed development and minor anomalies. At 5 years he lagged around 1 year behind his peers. Language development was most delayed, especially pronunciation. At 5 years he could put two to three words together, but it was difficult to understand him. No anatomic malformations were identified that could explain his language difficulties. Motor development was only slightly delayed and no hypotonia was noted. He also has deep set eyes, a prominent philtrum, and a slightly prominent forehead (Fig. 1). In addition, his ears are slightly low set and posteriorly angulated, with normal shape. A physical eye examination at the age of 6.5 years old showed: (1) 3 mm chorioretinal coloboma inferonasally in the left eye; (2) hypermetropia of 2.5 diopters bilaterally and minor exophoria; (3) hypertelorism with an interpupillary distance (IPD) of 62 mm (>97th centile), inner canthal distance (ICD) of 35 mm (97th centile), and outer canthal distance (OCD) of 84 mm (75th centile) [Dollfus and Verloes, 2004]. He has atopic dermatitis and asthma. Gbanding at standard resolution, followedbyFISH with Whole Painting Libraries from chromosomes 2, 6, and 14, and with 2qtel and 6qtel probes (Vysis, Abbott Molecular Inc., Downers Grove, IL), defined the karyotype of the propositus as: 46,XY, t(2,6,14) der (2)(2pter ! 2q33.3::6p24.1 ! 6pter), der(6) (2qter>2q33.3::14q24.3! 14q11.2::6p24.1! 6qter), der(14)(14pter ! 14q11.2::14q24.3 ! 14qter).ish der(2)(wcp2þ,wcp6þ,tel6pþ).ish der(6)(wcp6þ, wcp14þ ,wcp2þ , tel2qþ ) . ish der (14)(wcp14þ) (Fig. 2). Array-CGH (44k B oligo array, Agilent Technologies, Santa Clara, CA; data analysis by BlueFuse, BlueGnome, Cambridge, UK) detected a deletion on chr6:7933252–10510600 bp, a duplication on chr7:142863310–143726151 bp, and a deletion on chr14:18590766–19851375 bp (supporting information Table I may be found in the online version of this article). Thepositionsof the aberrations refer toNCBI Build 35. The duplicated region on chromosome 7 was not studied further because it corresponds to a known Copy Number Variant (CNV, http://projects.tcag.variation). The chromosome 14 deletion also corresponds to a known CNV and it is enriched with intraand inter-chromosome segmental duplications. This region, however, was analyzed by FISH

A newly recognised microdeletion syndrome involving 2p15p16.1: narrowing down the critical region by adding another patient detected by genome wide tiling path array comparative genomic hybridisation analysis

A 32-year-old, mentally retarded male was referred to our centre for further clinical genetic analysis. He was born to non-consanguineous parents after 42 weeks’ gestation with a birth weight of...

Telecanthus and Hypertelorism in Frontoethmoidal Meningoencephaloceles and the Surgical Correction of these Conditions

Frontoethmoidal meningoencephaloceles (MEC) are frequently associated with telecanthus (TC) and seldom with hypertelorism (HT). The correction of these orbital dysmorphisms are undertaken in the same setting as the surgical treatment of MEC. During several charity missions to Phnom Penh, Cambodia, the authors developed a simple surgical technique for the correction of TC that has not been described before. The results of this technique was evaluated as follows: in 58 patients, who underwent surgical treatment of MEC, the pre and postoperative inner canthal (ICD) and outer canthal distances (OCD) were measured; the interpupillary distance (IPD) was measured in 50 patients. Forty five (78%) out of the 58 patients showed a telecanthus before surgery; 39 (87%) of these 45 showed normal values after surgery, in the rest 6 (13%) the ICD could be decreased after surgery, however the values did not reach a normal range.A HT (including TC) was found in 10 patients presenting with MEC (17%) before surgery. Five (50%) of these patients did not show a HT in post surgical follow-up. In 3 (30%) of the remaining 5 patients showing persistent HT, the ICD alone could be decreased to a normal value (no TC), whereas in 2 (20%) others a TC was unchanged. Three patients with MEC had shown normal preoperative orbital morphometry. The mean follow-up was 9 months (range: 5-16 months). The reader is further referred to our previous paper for interpreting the orbital measurement values in Khmer Cambodians as pertinent to TC or HT.

Telecanthus and Hypertelorism in Frontoethmoidal Meningoencephaloceles and the Surgical Correction of These Conditions

This is the first of the two parts of a paper concerning a novel method on the surgical treatment of orbital dysmorphisms, especially telecanthus (TC) and hypertelorism (HT). The normal orbital values of a given ethnic group is an essential factor in determining the degree of correction intended in that patient population. We did not find any data related to the normal orbital values in Khmer-Cambodians in whom we performed the corrective surgeries. Thus, the aims of this article are to evaluate the orbital morphometric data procured in Khmer-Cambodians and to analyze the contradictory definitions of TC and HT found in the literature. We measured the inner canthal distance, outer canthal distance, and interpupillary distance in 688 Khmer-Cambodians. The measured normal values are presented and compared with other Asian populations. We discovered that the Khmer-Cambodian orbital morphometry did not resemble the general conception of an Asian appearance, but rather showed a similarity to values found in Indians. Telecanthus and hypertelorism are frequent orbital dysmorphisms that, however, find conflicting definitions in the literature. By means of a short literature review, we have attempted to reorganize the multiplicity of definitions in orbital measurements, as well as clarify the confusing terminology used in TC and HT.

Clinical and molecular characterization of a patient with a 2q31.2‐32.3 deletion identified by array‐CGH

We report on a patient with a de novo interstitial deletion of the long arm of chromosome 2 involving bands 2q31.2-2q32.3. The patient shows severe mental retardation, absence of speech, sleep disturbances, behavioral problems, and some dysmorphic features. In particular, he presents with macrocephaly, high forehead, thick and coarse hair, thick eyebrows, synophrys, increased inner and outer canthal distance, bifid nasal tip, high palate, micrognathia, dysmorphic right ear, and long and tapering fingers. Array-CGH analysis allowed us to identify and characterize a 2q interstitial deletion of about 13 Mb, involving the segment between cytogenetic bands 2q31.2 and 2q32.3. The deletion was confirmed by quantitative PCR. We compare the phenotype of our patient with those already reported in literature. In particular, we discuss the similarities shared with two recently reported patients, studied by array-CGH, who show an overlapping deletion. The common clinical features are: long face, high forehead, abnormal teeth and ears, midface hypoplasia, high palate, micrognathia, transparent and thin skin, high frequency of inguinal hernia, severe development impairment, and behavioral problems. Some genes located in the deleted region may be good candidates for the neurological phenotype such as ZNF533 and MYO1B, which are both involved in neuronal function. Furthermore, the GLS gene could be a good candidate in generating the behavioral phenotype in the patient. In fact, it encodes for the major enzyme yielding glutamate from glutamine and it can be implicated in behavioral disturbances in which glutamate acts as a neurotransmitter.

Stereo image matching for facial feature measurement to aid in fetal alcohol syndrome screening

The facial phenotype associated with fetal alcohol syndrome is identified through the measurement of facial distances and their comparison to population norms. As an alternative to time-consuming direct manual measurements, stereo photogrammetry has been used to obtain the required facial measurements from stereo digital photographs. While stereo photogrammetric measurement is faster, it requires manual marking of relevant facial landmarks on digital images. We present an algorithm that automatically finds matched feature points on the second of a pair of stereo images, after manual marking of the first. Standard image processing tools are used for preprocessing. Matching is based on a simple exhaustive search in an image window, with the sum of squared differences of the pixel intensities in the two images as the objective function. Eye measurements, namely palpebral fissure length, interpupillary distance, inner canthal distance and outer canthal distance, as well as distances that can be used to approximate the circularity of the upper lip, were obtained using the manual method of marking both images, and the method of automatic marking of the second image. Comparison revealed mean differences less than 1 mm.

Orbital measurements among the ethnic groups of Plateau State, Nigeria

Cephalomerty is a branch of anthropometry that describes measurement of head and face in cadaveric, living, or radiological specimen. This aspect of physical anthropology has been widely used in a substantial aspect of medicine. Of particular relevance in this study is its application in the field of ophthalmology and optometry. The aim of this study is to provide a baseline measurements of these orbital parameters for plateau state indigenes of various ethnic groups and to compare with other studies in Nigeria and other countries. The subjects used in this study were 213 medical students of Plateau state studying at University of Jos. Out of the four parameters, namely outer canthal distance, papebral fissure length, intercanthal distance and interpupillary distance, only outer canthal distance and papebral fissure length show any significance difference (p-value Keywords : orbital, ethnic, measurements Highland Medical Research Journal Vol. 3(2) 2005: 45-50

A Term Newborn Who Has Abnormal Facies

A term female presents with abnormal facies.The infant was delivered by the vaginal route in vertex presentation. She made the transition to the extrauterine environment without difficulty, with Apgar scores of 9 at both 1 and 5 minutes. Her birthweight was 3.3kg, which was appropriate for gestational age.The infant failed the newborn hearing screen bilaterally.*Adapted from Jones KL, ed. Smith's Recognizable Patterns of Human Malformation. 5th ed. Philadelphia, Pa: WB Saunders Co; 1997.Diagnosed clinically according to the Waardenburg Consortium.Waardenburg syndrome (WS) is an autosomal dominant disorder characterized by varying degrees of hypopigmentation, hearing loss, and defects in neural crest cell migration. The syndrome was named in 1951 by Petrus Johannes Waardenburg, a Dutch optometrist, who first defined the syndrome with six primary elements, including lateral displacement of the inner canthi with blepharophimosis, prominent broad nasal root, hypertrichosis of the medial eyebrows (synophyrys), white forelock, heterchromia iridis, and deafness. The frequency of WS is estimated to be 1 in 200,000 in the general population of the Netherlands and 1 in 20,000 in Kenya. There is no race or sex predilection, despite these reported frequencies.Multiple terms are used to describe the abnormal ocular findings in WS. Lateral displacement of the inner canthi gives rise to short palpebral fissures, resulting in telecanthus. Telecanthus is defined as an increased distance between canthi and is synonymous with hypertelorism (increased distance between two organs). Dystopia refers to the abnormal position of part of an organ and frequently is used to describe the position of the eyes in WS (ie, dystopia canthorum). Blepharophimosis is defined as a decrease in the size of the palpebral aperture without fusion of the lid margins, which results in convergent strabismus.Infants who have WS can be identified soon after birth. Four types of WS have been described, and all forms demonstrate marked variability, even within families.Congenital deafness in WS can be bilateral or unilateral and severe or moderate. Patients who have hearing loss and WS have temporal bone anomalies, with 50% having enlargement of the vestibular aqueduct visible on computed tomography.Cutaneous abnormalities include both hypopigmented lesions and hyperpigmented lesions and can resemble the lesions found in piebaldism, tuberous sclerosis, and neurofibromatosis.Ocular color abnormalities of WS present in three patterns: heterochromia iridis, bilateral isohypochromia iridis (pale blue eyes), and hypopigmentation of the fundus.Syndromes that have similar clinical features include Rozycki syndrome (deafness and viteligo), Fisch syndrome (congenital deafness and early graying of the hair), and Woolf syndrome (albinism and deafness).According to the Waardenburg Consortium, an individual can be diagnosed if two of the following major criteria or one major and two minor criteria are present:The measurements necessary to calculate the W index in mm are: inner canthal distance (a), interpupillary distance (b), and outer canthal distance (c)WS is associated with neural crest-derived melanocyte deficiency caused by mutations in transcription factors. More than 90% of individuals who meet the clinical diagnostic criteria for WS Type I have mutations in the PAX3 gene. The PAX3 gene is located on chromosome 2 and controls some aspects of the development of the face and inner ear. Approximately 15% of individuals who have Type II WS are heterozygous for mutations in the microphthalmia-associated transcription factor (MITF) gene. The MITF gene is found on chromosome 3 and is involved in the development of the ear. Type III WS is considered an extreme presentation of Type I, with some affected individuals being homozygous for the PAX3 gene mutation. Type IV WS can be caused by mutations in the genes for endothelin-3 or one of its receptors, EDNRB and EDN3 genes.

Eye measurements in 7-year-old black South African children

Background: Ethnic variation often renders anthropometric reference values obtained in one population unsuitable for use in others. Fetal alcohol syndrome (FAS) diagnosis relies in part on the evaluation of certain anthropometric facial features. Measurements of these facial features in South African children have not been compared with measurements obtained in other populations.Aim: The study seeks to determine the suitability of reference values obtained in other populations for the diagnosis of the facial phenotype associated with FAS in South African children.Participants and methods: Palpebral fissure length (PFL), interpupillary distance (IPD), inner canthal distance (ICD) and outer canthal distance (OCD) measured in a group of black South African children were obtained from digital photographs using stereophotogrammetry, and compared with measurements published for other populations. The study population comprised 17 7-year-old boys and 17 7-year-old girls. The precision and reliability of measurements were examined with reference to published data.Results: Eye distance measurements in the study population do not consistently reflect those in any one other population for which such measurements have been published.Conclusion: Population-specific reference values of eye distance measurements should be established for South African children.

Biometry of Face and Brain in Fetuses with Trisomy 21

The aim of this study was to specify the early setting of the particular craniofacial morphology in Down syndrome during the fetal period from data based on postmortem examinations. The study included 1277 fetuses at 15-38 gestational weeks (GW): 922 control fetuses and 355 fetuses with trisomy 21, selected from fetopathology units in Paris. Body weight (BW) and nine dimensions of the face, skull, and brain were recorded: the outer and inner canthal distances (OCD, ICD), biparietal diameter (BPD), head circumference (HC), brain weight (BrW), occipitofrontal diameters of left and right hemispheres (lOFD, rOFD), weight of the infratentorial part of the brain (IBW), and maximal transversal diameter of the cerebellum (CTD). Four ratios were computed: BPD/HC, OCD/BPD, BrW/BW, IBW/BrW. Differences between trisomic fetuses and control fetuses were tested by age interval. Results showed that BW, rOFD, and lOFD were lower in trisomic fetuses as early as 15 GW. Cerebellar hypoplasia included lower IBW and CTD in trisomic fetuses. The IBW/BrW ratio was higher in trisomic fetuses, showing that growth restriction affected the infratentorial part of the brain less than the supratentorial part. Early brachycephaly was found in trisomic fetuses, with higher values of BPD and BPD/HC from 15 GW. ICD and OCD were not significantly different in the two groups, but OCD/DBP ratio was lower in trisomic fetuses. These results confirm the early phenotypical expression of trisomy 21 on craniofacial morphology, associated with a marked restriction of brain growth, especially in the supratentorial part.

High Altitude and the Eye: A Case Controlled Study in Clinical Ocular Anthropometry of Changes in the Eye

Tribal natives of two spatially separate districts of Lahaul-Spiti (mean altitude = 3300 m) and Kinnaur (mean altitude = 1,700 m) in the Himalayan state of Himachal Pradesh have lived for centuries as closed isolated groups, marrying within the local community up to the recent past. Studies on highland natives in the Andes have shown differences in chest diameters, lung volumes, hematocrit, and the like, in those living at high altitudes. We wanted to study whether stay at high altitude for generations confers any change in the ocular anthropometry. No study of this nature is available in the literature. We studied the ocular parameters using Snellen's charts, Standard Royal-Air-Force Rule, A-2,500 Sonomed A-Scan, Goldmann's aplanation tonometer, and S-7,000 Autorefractometer on 50 healthy volunteers at the Indira Gandhi Medical College Out Patient Department at Shimla (mean altitude = 2,100 m). Those living at higher altitudes in Lahaul-Spiti [LS] (n = 10) had significantly wider nose bridge width (p < 0.05); inter-inner canthal distance [IICD] (p < 0.05); inter-outer canthal distance [IOCD] (p < 0.05); and interpupillary distance [IPD] (p < 0.05) than the group living at Kinnaur (n = 40) at lower elevation. The LS group also had narrower palpebral fissure length in the vertical dimension (p = 0.05) and a lower IOP (p = 0.002) than the Kinnaur group. The axial length, lens thickness, and anterior chamber depth were comparable in the two groups. It appears that the eye and its adnexa respond to hypoxia, ultraviolet radiations, and persistent snow cover at high altitude by altering its anthropometry in a subtle but discernible manner. This was a hitherto unexplored area in the literature. Further studies to elucidate and substantiate the findings of the study are indicated.