Narrow Palpebral Fissures Research Articles

An Interesting Case of Lower Lip Cleft with Syndromic Features

Observation of a patient named Sanjay, a 23 year old male, revealed a case of anatomical curiosity, an uncommon variant of a developmental anomaly and masochistic habit, an atypical median mandibular cleft with distinctive facial appearance and intellectual disability. Facial gestalt is characterized by a round face, the heavy horizontal eyebrows with narrow palpebral fissures.

PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features

PUF60 encodes a nucleic acid-binding protein, a component of multimeric complexes regulating RNA splicing and transcription. In 2013, patients with microdeletions of chromosome 8q24.3 including PUF60 were found to have developmental delay, microcephaly, craniofacial, renal and cardiac defects. Very similar phenotypes have been described in six patients with variants in PUF60, suggesting that it underlies the syndrome. We report 12 additional patients with PUF60 variants who were ascertained using exome sequencing: six through the Deciphering Developmental Disorders Study and six through similar projects. Detailed phenotypic analysis of all patients was undertaken. All 12 patients had de novo heterozygous PUF60 variants on exome analysis, each confirmed by Sanger sequencing: four frameshift variants resulting in premature stop codons, three missense variants that clustered within the RNA recognition motif of PUF60 and five essential splice-site (ESS) variant. Analysis of cDNA from a fibroblast cell line derived from one of the patients with an ESS variants revealed aberrant splicing. The consistent feature was developmental delay and most patients had short stature. The phenotypic variability was striking; however, we observed similarities including spinal segmentation anomalies, congenital heart disease, ocular colobomata, hand anomalies and (in two patients) unilateral renal agenesis/horseshoe kidney. Characteristic facial features included micrognathia, a thin upper lip and long philtrum, narrow almond-shaped palpebral fissures, synophrys, flared eyebrows and facial hypertrichosis. Heterozygote loss-of-function variants in PUF60 cause a phenotype comprising growth/developmental delay and craniofacial, cardiac, renal, ocular and spinal anomalies, adding to disorders of human development resulting from aberrant RNA processing/spliceosomal function.

Classification and corrective methods of obviously asymmetric palpebral fissure of single-fold eyelid

To discuss the classification of obviously asymmetric palpebral fissure of single-fold eyelid and their corrective methods performed with double-fold eyelid blepharoplasty simultaneously. Forty patients with obviously asymmetric palpebral fissure of single-fold eyelid of two eyes were admitted to Linyi People's Hospital in Shandong province from January 2010 to September 2014, asking for double-fold eyelid blepharoplasty. The preoperative difference of palpebral fissure width between two eyes reached 1.0-2.0 (1.44±0.23) mm. Obviously asymmetric palpebral fissures of single-fold eyelid were divided into three types according to the characteristics of eyelids of two eyes and were corrected by following methods performed with double-fold eyelid blepharoplasty with total incision simultaneously. (1) Twenty-four patients only with different sagging skin of upper eyelids were corrected by resecting sagging skin of eyelids' margins, and the width of the widest position of resected eyelids' skin was twice as wide as that of the sagging skin of eyelids' margins (the same below). (2) Among 6 patients only with different palpebral fissure width, 4 patients whose difference of palpebral fissure width was not bigger than 1.4 mm were corrected by the method of resecting surplus skin, and the width of the widest position of resected eyelids' skin with narrower palpebral fissure was 1 mm wider than the difference of palpebral fissure width between two eyes (the same below). The other 2 patients whose difference of palpebral fissure width between two eyes was bigger than 1.4 mm were corrected by the method of resecting surplus skin and shortening aponeurosis of levator muscle of upper eyelid. The width of shortened aponeurosis of levator muscle of eyelids with narrower palpebral fissure was 1 mm wider than difference of palpebral fissure width between two eyes (the same below). (3) Among 10 patients with mixing symptoms of sagging upper eyelids skin and difference of palpebral fissure width bigger than 1.0 mm after smoothing sagging upper eyelids' skin, 7 patients whose difference of palpebral fissure width was not bigger than 1.4 mm were corrected by resecting sagging skin and the method of resecting surplus skin. The other 3 patients whose difference of palpebral fissure width was bigger than 1.4 mm were corrected by resecting sagging skin, shortening aponeurosis of levator muscle of upper eyelids and resecting surplus skin. Palpebral fissure widths of patients were measured during follow-up. Difference of palpebral fissure width between two eyes was calculated and the last difference was recorded. Data were processed with paired sample t test. Nine patients who showed incomplete closure of palpebral fissure on the sides of resected eyelids skin or shortened aponeurosis of levator muscle of upper eyelids after operations were treated with erythromycin eye ointment drop in eyes and recovered one week to one month after operations, with no complication of conjunctivitis or keratitis. Double-fold eyelids of all patients who were followed up for 8 to 12 months showed natural shape, smooth lines. No patient showed obvious asymmetry of palpebral fissure between two eyes, and no recurrence of asymmetric palpebral fissure was observed. Difference of palpebral fissure width was 0.1-0.5 (0.19±0.09) mm in the last follow-up, which was obviously smaller than that before operation (t=39.202, P<0.001). Obviously asymmetric palpebral fissure of single-fold eyelid can be corrected during the operation of double-fold eyelid blepharoplasty. Patients only with different sagging skin of upper eyelids can be corrected by resecting sagging skin of eyelids' margins. Patients only with different palpebral fissure width between two eyes can be corrected by the method of resecting surplus skin or combining the method of shortening aponeurosis of levator muscle of upper eyelids. Patients with different sagging skin of upper eyelids and different palpebral fissure width can be corrected by resecting sagging skin of eyelids' margins and the method of resecting surplus skin or combining the method of shortening aponeurosis of levator muscle of upper eyelids.

Type 4 Duane syndrome

To identify cases of synergistic divergence whose characteristics suggest that this entity is a form of Duane syndrome. The records of all patients with a Duane syndrome diagnosis, including standardized eye position photographs, from the E-Consultation program of Cybersight, Orbis International were analyzed. A total of 350 Duane syndrome cases were identified. Of these, 19 (5%) had features consistent with synergistic divergence, or type 4 Duane syndrome. Of the 19, 16 (84%) were male, 15 (79%) had palpebral fissure narrowing, all had anomalous head posture, and 18 (95%) were exotropic. Only 9 (47%) patients were reported to have undergone surgery. Synergistic divergence is a rare entity with features similar to those of Duane syndrome. We suggest that this entity be classified as type 4 Duane syndrome, because it has unique findings and an innervation pattern that differs from the other 3 recognized types.

Ocular Findings in Children With 22q11.2 Deletion Syndrome.

To identify the ocular features of children diagnosed as having 22q11.2 deletion syndrome in a Turkish population, which is the most common microdeletion syndrome with a wide range of facial and ocular abnormalities. Sixteen children aged between 4 months and 18 years with a microdeletion in chromosome 22q11.2 underwent a detailed ophthalmological examination including uncorrected and best corrected visual acuity testing, stereoscopic vision examination, biomicroscopic and indirect fundus examination, and ocular motility testing. All patients had at least one ocular abnormality. The major abnormalities were eyelid abnormalities (eye hooding, narrow palpebral fissure, telecanthus, hypertelorism, sparse and thin eyebrows and eyelashes, blepharitis, and distichiasis), posterior embryotoxon, and tortuous retinal vessels in at least half of the patients. Other ophthalmological disorders were refractive errors, iris remnants, and strabismus. The chromosome 22q11.2 deletion syndrome is associated with a wide range of ocular disorders, which necessitates a comprehensive eye examination for appropriate treatment and follow-up. Ocular findings sometimes can provide a clue to the diagnosis of 22q11.2 deletion. [J Pediatr Ophthalmol Strabismus. 2016;53(4):218-222].

Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy.

Mutations in PIGN, resulting in multiple congenital anomalies-hypotonia-seizures syndrome, a glycosylphosphatidylinositol anchor deficiency, have been published in four families to date. We report four patients from three unrelated families with epilepsy and hypotonia in whom whole exome sequencing yielded compound heterozygous variants in PIGN. As with previous reports Patients 1 and 2 (full siblings) have severe global developmental delay, gastroesophageal reflux disease, and minor dysmorphic features, including high palate, bitemporal narrowing, depressed nasal bridge, and micrognathia; Patient 3 had early global developmental delay with later progressive spastic quadriparesis, intellectual disability, and intractable generalized epilepsy; Patient 4 had bilateral narrowing as well but differed by the presence of hypertelorism, markedly narrow palpebral fissures, and long philtrum, had small distal phalanges of fingers 2, 3, and 4, absent distal phalanx of finger 5 and similar toe anomalies, underdeveloped nails, unusual brain anomalies, and a more severe early clinical course. These patients expand the known clinical spectrum of the disease. The severity of the presentations in conjunction with the patients' mutations suggest a genotype-phenotype correlation in which congenital anomalies are only seen in patients with biallelic loss-of-function. In addition, PIGN mutations appear to be panethnic and may be an underappreciated cause of epilepsy.

Etiology of craniofacial malformations in mouse models of blepharophimosis, ptosis and epicanthus inversus syndrome.

Blepharophimosis, ptosis, epicanthus-inversus syndrome (BPES) is an autosomal dominant genetic disorder characterized by narrow palpebral fissures and eyelid levator muscle defects. BPES is often associated to premature ovarian insufficiency (BPES type I). FOXL2, a member of the forkhead transcription factor family, is the only gene known to be mutated in BPES. Foxl2 is essential for maintenance of ovarian identity, but the developmental origin of the facial malformations of BPES remains, so far, unexplained. In this study, we provide the first detailed account of the developmental processes leading to the craniofacial malformations associated to Foxl2. We show that, during development, Foxl2 is expressed both by Cranial Neural Crest Cells (CNCCs) and by Cranial Mesodermal Cells (CMCs), which give rise to skeletal (CNCCs and CMCs) and muscular (CMCs) components of the head. Using mice in which Foxl2 is selectively inactivated in either CNCCs or CMCs, we reveal that expression of Foxl2 in CNCCs is essential for the development of extraocular muscles. Indeed, inactivation of Foxl2 in CMCs has only minor effects on muscle development, whereas its inactivation in CNCCs provokes a severe hypoplasia of the levator palpabrae superioris and of the superior and inferior oblique muscles. We further show that Foxl2 deletion in either CNCCs or CMCs prevents eyelid closure and induces subtle skeletal developmental defects. Our results provide new insights in the complex developmental origin of human BPES and could help to understand the origin of other ocular anomalies associated to this syndrome.

Phacoemulsification using 8 flexible iris hooks in a patient with a short eye, small pupil, and phacodonesis

We describe a technique that uses flexible iris hooks to dilate and stabilize the capsular bag in a patient with a very deep set and small eye, narrow palpebral fissure, shallow anterior chamber, and very small pupil, who was scheduled for routine phacoemulsification for a white cataract. At the time of iris hook placement, the capsular bag was noted to be markedly unstable. The patient was managed successfully with phacoemulsification of the lens using 4 iris hooks to dilate the pupil and 4 iris hooks to stabilize the capsular bag during surgery. A foldable posterior chamber 3-piece intraocular lens was fixated in the ciliary sulcus. Neither author has a financial or proprietary interest in any material or method mentioned.

Simultaneous Presentation of Duane Retraction Syndrome and Coats' Disease: A Case Report

Introduction: Duane retraction syndrome and Coats' disease are two relatively rare ocular conditions that occur in congenital and acquired forms in children. We present a 12-year-old boy with the chief complaint of eye deviation who was diagnosed later on to have Duane retraction syndrome in one eye and Coats' disease in the other. After a comprehensive review of literature, we assume that this is the first case of simultaneous presentation of these two disorders ever to be published. However, we do believe that these are two separated entities and their simultaneous presentation in this patient is pure coincident. Case:A twelve-year-old Asian male was presented with about 25 prism diopters of exotropia in primary position, limited abduction/adduction, and narrowing of palpebral fissure of the right eye since childhood. The left eye showed lipid deposition, macular edema, and peripheral retinal telangiectasia. Conclusion: The occurrence of two different congenital and acquired ocular diseases is rare. This is the first simultaneous presentation of Duane syndrome and Coats' disease ever to be reported in a young patient.

Duane vertical surgical treatment

Case reportWe report three cases with a vertical incomitance in upgaze, narrowing of palpebral fissure, and pseudo-overaction of both inferior oblique muscles. Surgery consisted of an elevation of both lateral rectus muscles with an asymmetrical weakening. A satisfactory result was achieved in two cases, whereas a Lambda syndrome appeared in the other case. DiscussionThe surgical technique of upper-insertion with a recession of both lateral rectus muscles improved vertical incomitance in two of the three patients; however, a residual deviation remains in the majority of cases.

Three novel GJA1 missense substitutions resulting in oculo-dento-digital dysplasia (ODDD) — Further extension of the mutational spectrum

Oculodentodigital dysplasia (ODDD) is a clinically variable genetic disorder caused by mutations of the GJA1 gene, predominantly inherited in an autosomal dominant fashion. In rare cases ODDD can also exhibit autosomal recessive mode of inheritance. The phenotype of ODDD comprises craniofacial (short and narrow palpebral fissure, thin, narrow nose with hypoplastic alae nasi), dental (oligodontia, hypoplastic enamel), and digital abnormalities (syndactyly of finger 4/5, hypoplastic phalanges). Ocular manifestation is typical and involves microphthalmia, microcornea, glaucoma, congenital malformations of iris or vitreous, ectopic pupils or strabismus. To date, only 67 GJA1 mutations have been described to underlie ODDD and most of them (i.e. 97%) represent missense substitutions. In this report, we describe three (two familial and one sporadic) non-consanguineous cases presenting with ODDD features in whom we identified novel missense heterozygous mutations of the GJA1 gene: c.317T>G (p. L106R), c.G139C (p.D47H), and c.C257A (p.S86Y). The first two mutations were inherited from an affected parent, whereas the latter one occurred de novo. The mutations affect highly conserved amino acid residues located in the different portions of the GJA1 protein. Our report broadens the spectrum of probably pathogenic mutations associated with ODDD phenotype and demonstrates that the amino acid substitutions at highly conserved positions 47, 86, 106 may affect protein functioning and lead to the development of this syndrome. Together with molecular data, we provide a brief clinical description of the affected individuals.

Does Infantile Abduction Deficit Indicate Duane Retraction Syndrome Until Disproven?

Duane retraction syndrome consists of abduction deficit and palpebral fissure narrowing, upshoots, or downshoots on adduction. Infants with abduction deficit should be considered to have Duane retraction syndrome until disproven, because congenital abducens nerve palsy is extremely rare. The abducens nerve on the affected side is absent in type 1 Duane retraction syndrome and in some type 3 patients. The authors present a 7-month-old girl who showed limitation of abduction simulating Duane retraction syndrome. High-resolution magnetic resonance imaging (MRI) revealed atrophic lateral rectus and present abducens nerve. This report is important because this case showed that congenital abducens nerve palsy exists, although it is extremely rare, and high-resolution MRI could be pivotal for the differentiation of Duane retraction syndrome and congenital abducens nerve palsy in infancy.

Congenital Heart Disease as a Warning Sign for the Diagnosis of the 22q11.2 Deletion.

BackgroundTo alert for the diagnosis of the 22q11.2 deletion syndrome (22q11.2DS) in patients with congenital heart disease (CHD).ObjectiveTo describe the main CHDs, as well as phenotypic, metabolic and immunological findings in a series of 60 patients diagnosed with 22q11.2DS.MethodsThe study included 60 patients with 22q11.2DS evaluated between 2007 and 2013 (M:F=1.3, age range 14 days to 20 years and 3 months) at a pediatric reference center for primary immunodeficiencies. The diagnosis was established by detection of the 22q11.2 microdeletion using FISH (n = 18) and/or MLPA (n = 42), in association with clinical and laboratory information. Associated CHDs, progression of phenotypic facial features, hypocalcemia and immunological changes were analyzed.ResultsCHDs were detected in 77% of the patients and the most frequent type was tetralogy of Fallot (38.3%). Surgical correction of CHD was performed in 34 patients. Craniofacial dysmorphisms were detected in 41 patients: elongated face (60%) and/or elongated nose (53.3%), narrow palpebral fissure (50%), dysplastic, overfolded ears (48.3%), thin lips (41.6%), elongated fingers (38.3%) and short stature (36.6%). Hypocalcemia was detected in 64.2% and decreased parathyroid hormone (PTH) level in 25.9%. Decrease in total lymphocytes, CD4 and CD8 counts were present in 40%, 53.3% and 33.3%, respectively. Hypogammaglobulinemia was detected in one patient and decreased concentrations of immunoglobulin M (IgM) in two other patients.ConclusionSuspicion for 22q11.2DS should be raised in all patients with CHD associated with hypocalcemia and/or facial dysmorphisms, considering that many of these changes may evolve with age. The 22q11.2 microdeletion should be confirmed by molecular testing in all patients.

Craniofacial morphology analysis as part of comprehensive treatment of patients with 22q11.2 deletion syndrome

Background and purpose: 22q11.2 deletion syndrome (22q11.2DS) is a rare chromosomal disorder produced in chromosome 22, by a microdeletion at the long arm. Craniofacial characteristics include: wide nasal root with bulbous tip, short filtrum, retrognathia, low-set ears, prominent and overfolding helix, narrow palpebral fissures and hypertelorism. Only a few publications provide information about cephalometric characteristics of this patients and most of them include patients clinically diagnosed without confirmation by FISH test.

Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome

BackgroundKaufman oculocerebrofacial syndrome (KOS) is a developmental disorder characterised by reduced growth, microcephaly, ocular anomalies (microcornea, strabismus, myopia, and pale optic disk), distinctive facial features (narrow palpebral fissures, telecanthus, sparse...

Tratamiento del síndrome de Duane vertical

Case reportWe report 3 cases with a vertical incomitance in upgaze, narrowing of palpebral fissure, and pseudo-overaction of both inferior oblique muscles. Surgery consisted of an elevation of both lateral rectus muscles with an asymmetrical weakening. A satisfactory result was achieved in 2 cases, whereas a Lambda syndrome appeared in the other case. DiscussionThe surgical technique of upper-insertion with a recession of both lateral rectus muscles improved vertical incomitance in 2 of the 3patients; however, a residual deviation remains in the majority of cases.

Duplication 16p13.3 and the CREBBP gene: Confirmation of the phenotype

The introduction of molecular karyotyping technologies into the diagnostic work-up of patients with congenital disorders permitted the identification and delineation of novel microdeletion and microduplication syndromes. Interstitial 16p13.3 duplication, encompassing the CREBBP gene, which is mutated or deleted in the Rubinstein–Taybi syndrome, have been proposed to cause a recognisable syndrome with variable intellectual disability, normal growth, mild facial dysmorphism, mild anomalies of the extremities, and occasional findings such as developmental defects of the heart, genitalia, palate or the eyes. We here report the phenotypic and genotypic delineation of 9 patients carrying a submicroscopic 16p13.3 duplication, including the smallest 16p13.3 duplication reported so far. Careful clinical assessment confirms the distinctive clinical phenotype and also defines frequent associated features : marked speech problems, frequent ocular region involvement with upslanting of the eyes, narrow palpebral fissures, ptosis and strabismus, frequent proximal implantation of thumbs, cleft palate/bifid uvula and inguinal hernia. It also confirms that CREBBP is the critical gene involved in the duplication 16p13.3 syndrome.

554 Koolan Syndrome is a Novel Genomic Disorder with Mental Handicap Multiple Congenital Anomaly Due to Micro Deletion at 17Q21.31

AimOur aim is to report a case of koolan syndrome in a 3 year old male child.MethodsClinical history, physical examination, clinical photography results of molecular genetic testing are presented.ResultsA male...

Biometric Study of Eyelid Shape and Dimensions of Different Races with References to Beauty

There are few studies that evaluate the differences in the perception of beauty and attractiveness of different races or ethnicities. The purpose of this study was to determine whether there are any actual differences in the configuration of beautiful eyes among different races. Using seven composite faces of different races or ethnicities, photogrammetric measurements were performed to determine the relative differences in the average and attractive configuration of the eyes. Fourteen distance measurements and five angular measurements were performed for analyzing the morphological differences in the configuration of attractive and average faces. The results of our study found that attractive Korean faces have relatively wide-set eyes and that the medial and lateral eye fissure height is greater than that in average Korean faces. Attractive Korean faces have larger but not ptotic eyes than those in average Korean faces and they have a narrow double fold line; however, attractive Asian faces have a slightly higher double fold line. Attractive Korean or Asian faces do not have an epicanthus and there is a lot of exposure of white in the medial and lateral area of the eyes. Attractive Caucasian and African faces have an acute or keen shape to the eyes like the jaguar's eye. Attractive Asian faces have a less steep slant of the palpebral fissure compared to that of the average Asian face, but attractive Caucasian and African faces have a steeper palpebral slant than that of average Caucasian and African faces. Attractive Caucasian and African faces have a relatively narrower palpebral fissure height and width than average Caucasian and African faces. Regardless of race, attractive faces have wide-set eyes and a lower brow position than average faces. "Beautiful eyes" can be defined as youthful, brilliant, vivid, and attractive. We found that there are some common and some different characteristics in the configuration of beautiful eyes according to racial background. This journal requires that authors assign a level of evidence to each article.

Udar niedokrwienny pnia mózgu bez trwałych następstw klinicznych w przebiegu samoistnego rozwarstwienia tętnicy szyjnej wewnętrznej – opis przypadku.

Internal carotid artery dissection (ICAD) is a frequent cause of a stroke in young patients. Risk factors which can lead to dissection include neck injury and diseases of the inner wall of the artery. Common symptoms in ICAD are cervical pain and headache, Horner's syndrome, paralysis of the cranial nerves and subsequently cerebral and retinal ischemia. MR angiography in TOF technique and brain MRI in T1- and T2-weighted images, FLAIR and DWI sequences are the method of choice in patients with ICAD but contrast-enhanced multislice computed tomography remains the fastest and the most available diagnostic method. A 39-year old woman, previously healthy, presented to the Hospital Emergency Department because of increasing neck pain on the right side and difficulty in swallowing. The neurological examination revealed: drooping of the right eyelid with narrow palpebral fissure, dysarthria, anisocoria (narrower pupil on the right side), unilateral hypoesthesia on the left side, weak palatal and pharyngeal reflexes on both sides, paresthesia within the left half of the body. Seven days before, the patient felt a sudden, severe neck pain radiating to the temporal apophysis. CT angiography revealed a defect in contrast filling within the left internal carotid artery and right vertebral artery. MRI of the head with MR angiography showed internal carotid artery dissection on the left side and dissection of the right vertebral artery and no ischemic changes within the brain. CT and MR angiography are methods characterized by high sensitivity in detecting dissection of the cervical arteries.