Preauricular Tags Research Articles

Do you know this syndrome?

Goldenhar syndrome is a sporadic or inherited genetic syndrome characterized by limbal dermoids, preauricular skin tags and mandibular hypoplasia. Vertebral abnormalities may occur. The incidence of this syndrome ranges from 1 in 5,600 to 1 in >20,000 live births. It consists of abnormalities involving the first and second branchial arches. The etiology of the syndrome is heterogeneous. Diagnosis should be based principally on clinical aspects, which should be associated with the patient's systemic conditions and radiologic findings. Treatment depends on the patient's age and systemic manifestations, with a multidisciplinary approach often being required.

Cervical auricles in a family

ejd.2012.1678 Auteur(s) : Naoki Oiso naoiso@med.kindai.ac.jp, Akira Kawada Department of Dermatology, Kinki University Faculty of Medicine, 377-2 Ohno-Higashi, Osaka-Sayama 589-8511, Japan Accessory auricles are congenital tags or nodules that usually contain a cartilaginous skeleton. Most are 3 to 10 mm in diameter and some can be found only after palpation [1]. They are present on the anterior aspect of the tragus, on the cheek along the line of the mandible, or on the neck along the anterior [...]

Nager Acrofacial Dysostosis Syndrome: A Newborn with Bilateral Hearing Impairment

DOI: http://dx.doi.org/10.3329/bjch.v34i2.10220 BJCH2010; 34(2): 67-69

A 600 kb triplication in the cat eye syndrome critical region causes anorectal, renal and preauricular anomalies in a three-generation family

Cat eye syndrome (CES) is caused by a gain of the proximal part of chromosome 22. Usually, a supernumerary marker chromosome is present, containing two extra copies of the chromosome 22q11.1q11.21 region. More sporadically, the gain is present intrachromosomally. The critical region for CES is currently estimated to be about 2.1 Mb and to contain at least 14 RefSeq genes. Gain of this region may cause ocular coloboma, preauricular, anorectal, urogenital and congenital heart malformations. We describe a family in which a 600 kb intrachromosomal triplication is present in at least three generations. The copy number alteration was detected using MLPA and further characterized with interphase and metaphase FISH and SNP-array. The amplified fragment is located in the distal part of the CES region. The family members show anal atresia and preauricular tags or pits, matching part of the phenotype of this syndrome. This finding suggests that amplification of the genes CECR2, SLC25A18 and ATP6V1E1, mapping within the critical region for CES, may be responsible for anorectal, renal and preauricular anomalies in patients with CES.

Craniofacial anomalies amongst births at two hospitals in Nairobi, Kenya

The pattern of congenital oral and craniofacial anomalies (CFAs) in the Kenyan population remains unknown. The objective of this study was to describe the pattern of occurrence of CFAs at two hospitals in Nairobi. A descriptive cross-sectional study at the Kenyatta National Hospital and Pumwani Maternity Hospital was carried out from November 2006 to March 2007. Mothers who delivered at the hospitals consented to an interview and physical examination of their babies within 48h of delivery. The anomalies were classified for type and magnitude. Data were analysed to determine the association of these anomalies with ages of the mothers, gender, weight, birth order, mode of delivery and birth status of the babies. During the study period, 7989 babies were born. The CFAs manifested in 1.8% of the total births and were more common in female (1.4%) than in male (1.0%) live births. 12.8% of stillbirths had CFAs, with lesions manifesting more in males (16.7%) than in females (6.9%). The commonest CFA was preauricular sinus (4.3/1000) followed by hydrocephalus (1.9/1000) then preauricular tags and cleft lip and palate (1.5/1000 and 1.3/1000 total births, respectively).

A Preauricular Hairy Papule in an Infant: Hair Follicle Nevus Closely Similar to Accessory Tragus

A Preauricular Hairy Papule in an Infant: Hair Follicle Nevus Closely Similar to Accessory Tragus

Anaesthesia and airway management of occulo auricular vertebral dysplasia: A rare case report

A 12 year old girl child from the department of Ophthalmology posted for right eye limbal dermoid excision. Opthlamic examination and history revealed bilateral restricted eye movements, limbal dermoids, and decreased vision since birth. Fundus examination showed pathological myopia. There were multiple preauricular appendages in front of both ears. The lateral X-ray of cervical spine showed fused second and third cervical vertebra with loss of intervertebral disc space. Chest X-ray showed scoliosis of Cervico-Thorasic vertebra with convexity to right. Clinical examination of the airway revealed restricted head and neck movements with Mallampatti class II which indicates difficult intubation. The history, clinical examination and radiological findings confirmed her to be a case of Goldenhar syndrome. Difficult airway continues to be a major cause of anaesthesia related complications. Therefore fibre optic intubation under regional nerve block and sedation was planned for the surgery. Lack of associated cardiac and neurological anomalies encouraged us to present the advantage of fibre optic intubation. The larynx was adequately relaxed because of regional nerve block which helped us by decreasing the number of attempt of scopy and vocal cords injury. The intraoperative and postoperative period was uneventful.

Multiple accessory tragi in a case of Down′s syndrome

Multiple accessory tragi in a case of Down′s syndrome

Mild nasal malformations and parietal foramina caused by homozygous ALX4 mutations

We report on a boy born to consanguineous parents, who had hypertelorism, a broad nasal bridge, ridge and tip, bifid nasal tip, cleft alae nasi, broad columella, unilateral preauricular tag, shallow labiogingival sulcus, and bilateral large parietal foramina. Cranial MRI revealed a kinked corpus body and small cerebellar vermis. Molecular analysis uncovered a homozygous c.673C > G (p.Q225E) mutation in ALX4 gene. We compare the relatively mild phenotype in the patient to the more marked phenotype described in other patients with homozygous ALX4 mutations, and to the phenotypes in patients with mutations in other ALX genes.

Normative Data for Anthropometric Parameters Used in Delineation of Dysmorphic Features in North Indian Children

To provide normative data for a set of anthropometric parameters which are commonly used in delineation of dysmorphic features. This cross-sectional observational study was conducted in a tertiary care hospital of Delhi. Six hundred infants and children up to 2 years with hundred subjects each in the age group of 0-3, 3-6, 6-9, 9-12, 12-18 and 18-24 months were included. Both sexes were represented equally in the sample to avoid bias. Inner and outer intercanthal distance were measured by sliding callipers. Inter pupillary distance was measured directly as the distance between midpoint of two pupils. Ear length was the maximum vertical distance from the superior to the inferior edge of the ear. Internipple distance was the distance between centre of both nipples. Hand length was the distance between distal wrist crease to the tip of middle finger. Middle finger length was the distance between proximal flexion crease and tip of middle finger. The data was analyzed using the LMS method and percentile curves were developed for each age group for all the seven parameters. No statistically significant differences between male and female infants were observed. Significant differences were observed from other south east Asian and Caucasian population stressing the need for generation of regional ethnic data. The percentage of other isolated anomalies noted was 1.16% for polydactyly, 2-4 syndactyly 2-4 toe syndactyly (0.89%), Preauricular tags (0.5%), double whorl pattern of hair (1.55%), 2-4 syndactyly (0.33%) and paraumbilical hernia (2.83%). Normative data directed towards the ethnic origin are useful in charting dysmorphic traits. Children with parameters less than 3rd percentile or more than 97th percentile should be evaluated for other co-existing anomalies. Percentile charts provided in the present study may also be applicable across India but more studies are required to validate the authors' contention.

Twelve-year prevalence of common neonatal congenital malformations in Zhejiang Province, China

One of the challenges that pediatricians face when examining birth defects is to understand the trends in its occurrence and provide clues to etiology. This study was undertaken to retrospectively assess the prevalence of 10 common neonatal congenital malformations by reviewing a database of all deliveries from 28 weeks up until 7 days of birth from January 1998 to December 2009 in Zhejiang Province, China. Ten common neonatal congenital malformations were selected for analysis. The incidence and the Cochran-Armitage Trend were assessed via SAS9.2. A P value ≤0.05 was considered statistically significant. Of 83 888 perinatals, 374 (4.46‰) suffered from congenital heart diseases (CHD), 77 (0.92‰) from congenital hydrocephalus, 32 (0.38‰) from intestinal atresia/stenosis, 36 (0.43‰) from anorectal malformations, 149 (1.78‰) from kidney malformations, 139 (3.31‰) from hypospadias (male), 178 (2.12‰) from orofacial clefts (OFC), 188 (2.24‰) from polydactyly, 62 (0.74‰) from syndactyly, and 269 (3.21‰) from accessory auricle anomaly. Their trend of prevalence varied as follows: CHD, P=0.0026; hydrocephalus, P=0.0042; intestinal atresia/stenosis, P=0.0103; anorectal malformations, P=0.4332; kidney malformations, P<0.0001; hypospadias, P=0.0021; OFC, P=0.005; polydactyly, P=0.0867; syndactyly, P=0.1941; and accessory auricle anomaly, P=0.0011. The upward trend was as follows: CHD (P=0.0026), intestinal atresia/stenosis (P=0.0103), kidney malformations (P<0.0001), hypospadias (P=0.0021), OFC (P=0.005), and accessory auricle anomaly (P=0.0011). The incidence of hydrocephalus (P=0.0042) showed a downward trend. No statistical significant trend was found in anorectal malformations (P=0.4332), polydactyly (P=0.0867) and syndactyly (P=0.1941). The incidences of CHD, intestinal atresia/stenosis, kidney malformations, hypospadias, OFC, and accessory auricle anomaly have increased in the last 12 years, but the incidences of anorectal malformations, polydactyly and syndactyly remain stable. The incidence of hydrocephalus shows a downward trend.

Analysis of Human Auricular Cartilage to Guide Tissue‐Engineered Nanofiber‐Based Chondrogenesis

Nanofiber-supported, in vitro-generated cartilage may represent an optimal starting material for the development of a cartilage implant for use in microtia reconstruction. To do so, the authors aim to first characterize the molecular composition of endogenous auricular cartilage and determine if human umbilical cord mesenchymal stem cells (hUCMSCs) can be differentiated into cartilage in vitro. Prospective, controlled. Academic research laboratory. Human ear cartilage from normal adults, pediatric patients with microtia, and pediatric patients with preauricular appendages (n = 2) was analyzed for collagens I, II, and X and elastin expression. In parallel, hUCMSCs were cultured on either polycaprolactone (PCL) or D, L-lactide-co-glycolic acid (PLGA) nanofiber scaffolds for 21 days under chondrogenic conditions. Cells were harvested for histologic, biochemical, and quantitative polymerase chain reaction analysis. Control cells were grown under both chondrogenic and nonchondrogenic conditions in the absence of nanofiber scaffolds. Histological analysis of human ear cartilage revealed similar levels and distribution of collagens I and X and elastin. Collagen II was not highly expressed in the microtia samples. hUCMSC cultures stained positively for glycosaminosglycans (GAG) and sulfated proteoglycans. Compared to control cells, hUCMSCs grown on PLGA nanofiber scaffolds had a higher differentiation index (P ≤ .012) and higher levels of collagen X mRNA expression (P ≤ .006). These data provide information regarding the composition of endogenous ear cartilage and suggest that hUCMSCs grown on PLGA nanofiber scaffolds may represent an optimal starting material for the development of a cartilage implant for use in microtia reconstruction.

Branchial arch defects and 19p13.12 microdeletion: Defining the critical region into a 0.8 M base interval

We present a patient with preauricular tags, preauricular and branchial pits, stenosis of the external auditory canals, mild hearing loss, and mild developmental delay who had a de novo 19p13.12 submicroscopic deletion. The size of the deletion was 760-kb, extending from 15,300,338 to 16,064,271 (hg18; NCBI Build 36.1). Our finding supports the notion that 19p13.12 represents a unique microdeletion syndrome characterized by branchial arch defects and the concept of exclusion mapping indicates that the putative locus for the branchial arch development is included in the 0.8-Mb interval defined by the deletion in the presently reported patient.

Cartilage Tissue Engineering: Implications for Microtia Reconstruction

Objective: Nanofiber-supported, in vitro-generated cartilage may represent an optimal starting material for the development of a cartilage implant for use in microtia reconstruction. We aim to characterize the molecular composition of endogenous auricular cartilage and determine if human umbilical cord mesenchymal stem cells (hUCMSCs) can be differentiated into cartilage in vitro. Method: Human ear cartilage from normal adults, patients with microtia, and pediatric patients with preauricular appendages were analyzed for collagen I, II, and X, and elastin expression. In parallel, hUCMSCs were cultured on nanofiber scaffolds for 21 days under chondrogenic conditions. Cells were harvested for histologic, biochemical, and quantitative PCR analysis. Results: Histologic analysis of human ear cartilage revealed similar levels and distribution of collagens I, X, and elastin. Collagen II was not highly expressed in the microtia samples ( P ≤ .0001). hUCMSC cultures stained positively for glycosaminosglycans and sulfated proteoglycans. Compared with control cells, hUCMSCs grown on PLGA nanofiber scaffolds had more extensive glycosaminosglycan production ( P ≤ .03), a higher differentiation index ( P ≤ .02), and higher levels of collagen X mRNA expression ( P ≤ .005). Conclusion: These data provide information regarding the composition of endogenous ear cartilage and suggest that hUCMSCs grown on PLGA nanofiber scaffolds may represent an optimal starting material for the development of a cartilage implant for use in microtia reconstruction.

Goldenhar syndrome with skin tags on the chest wall

Goldenhar syndrome is a congenital condition that is associated with abnormalities of the head and the bones of the spinal column. The abnormalities of the head can include anomalies of the eyes, ears, facial bones, and mouth. These anomalies are extremely variable in severity. The exact cause of Goldenhar syndrome remains unknown. The etiology of this rare disease is not fully understood, as it has shown itself variable genetically and of unclear causes. This work reports a case of Goldenhar syndrome in a 1-year-old female, who presented some of the classical signs of this rare condition including Hemifacial Microsomia, epibulber dermoid tumor and preauricular skin tags. However, vertebral anomalies, deafness, renal and cardiac anomalies were absent. Skin tags on the anterior chest wall were reported in this patient for the first time.

A Lebanese family with autosomal recessive oculo-auriculo-vertebral (OAV) spectrum and review of the literature: is OAV a genetically heterogeneous disorder?

Oculo-auriculo-vertebral (OAV) spectrum summarizes a continuum of ocular, auricular, and vertebral anomalies. Goldenhar syndrome is a variant of this spectrum and is characterized by pre-auricular skin tags, microtia, facial asymmetry, ocular abnormalities, and vertebral anomalies of different sizes and shapes. Most cases are thought to be sporadic. However, a few families were reported to have an autosomal recessive inheritance and other families’ presentation of the syndrome strongly supported an autosomal dominant inheritance. We report OAV in a female infant presenting with tracheomalacia, diaphragmatic hernia, encephalomeningocele, sacral neural tube defect, and cardiac defect and her brother having no more than dysmorphic features. The mode of inheritance in this family supports an autosomal recessive inheritance where the transmission was from normal first-degree consanguineous parents to one of the sons and to the daughter. This report further broadens the clinical presentation and symptoms of OAV and supports the hypothesis advancing OAV as a genetically heterogeneous disorder.

Persistence of the left superior vena cava in a patient with duplication of chromosome 8p—A case report

The authors report a child born with duplication of chromosome 8p. Associated findings have included an interhemispheric cyst with hydrocephalus, persistent left superior vena cava, large secundum-type atrial septal defect, bilateral inguinal hernias, right preauricular skin tag, hypertelorism, cleft palate, cortical thumbing, syndactyly of the toes, and clinodactyly. At three years of age, the patient does not crawl, is developmentally delayed, and has a ventriculoperitoneal shunt to treat his hydrocephalus. With further reports, this case may shed light on a genetic locus related to regression of the left superior vena cava.

A novel mutation in TNNT3 associated with Sheldon–Hall syndrome in a Chinese family with vertical talus

Distal arthrogryposis (DA) is a group of rare, clinically and genetically heterogeneous disorders primarily characterized by congenital contractures of the limb joints. Recently, mutations in genes encoding the fast-twitch skeletal muscle contractile myofibers complex, including troponin I2 (TNNI2), troponin T3 (TNNT3), tropomyosine 2 (TPM2), and embryonic myosin heavy chain 3 (MYH3), and the slow-twitch skeletal muscle myosin binding protein C1 (MYBPC1) were confirmed to cause DA1, DA2A, and DA2B. DA2B, or Sheldon–Hall syndrome (SHS; MIM 601680), is intermediate to DA1 and DA2A, or Freeman-Sheldon syndrome (FSS; MIM193700), and shows prominent facial traits. This report describes a Chinese family with SHS over three generations in which all affected individuals showed vertical talus and one demonstrated preauricular tags on the face. Linkage analysis and PCR sequencing revealed a novel substitute mutation at a hot-spot site in TNNT3 (c.187C > T; p.R63C). This mutation was confirmed to cosegregate with the DA phenotype in affected individuals. SIFT and PolyPhen analyses suggest that the mutation is pathogenic. We report this mutation in TNNT3 and speculate that bilateral vertical talus, or severe clubfoot, might be a special characteristic for cases with the TNNT3 R63C mutation.

Safety and pharmacokinetics of etravirine in pregnant HIV-1-infected women*

The nonnucleoside reverse transcriptase inhibitor (NNRTI) etravirine has demonstrated clinical benefits in treatment-experienced HIV-1-infected patients in the Phase III TMC125 to Demonstrate Undetectable viral load in patients Experienced with ARV Therapy (DUET) trials, with no relationship observed between pharmacokinetics and efficacy or safety [1]. However, clinical and pharmacokinetic data on the effects of exposure to etravirine during pregnancy are limited. Reproductive toxicology studies in animals found that etravirine did not affect fertility, early embryonic development or teratogenicity at exposures equivalent to those in humans at the recommended 200 mg twice-daily dose [2]. Etravirine was available to pregnant women with a need for active antiretrovirals via compassionate use during the clinical development programme. We report an assessment of etravirine pharmacokinetics, safety and pregnancy outcome in four HIV-1-infected women who received etravirine 200 mg twice daily in combination with darunavir/ritonavir and other antiretrovirals (nucleoside reverse transcriptase inhibitors and/or enfuvirtide) during the third trimester of pregnancy or earlier. Physicians were asked to follow the pregnancies until delivery and record any other relevant information, such as HIV infection status. Voluntary pharmacokinetic assessments to determine etravirine plasma concentrations were carried out during the third trimester. The pharmacokinetic analysis used a noncompartmental model with extravascular input (performed with winnonlin professional™ version 5.2.1; Pharsight Corporation, Mountain View, CA, USA). Patient characteristics, pregnancy outcome and pharmacokinetic data are shown in Table 1. Four infants were born in total, with no maternal, foetal or neonatal toxicity observed. One infant was born with the rare condition polyotia (a small accessory auricle on the right ear) but was otherwise normal on physical examination at birth. Given that no other malformations or other abnormal findings were detected, it would not appear that this case involved any further health issues. Both mothers for whom viral load data were available had undetectable levels (<50 HIV-1 RNA copies/mL) at the time of delivery. Viral load data were available for one of the infants, showing that, along with its mother, the infant had an undetectable viral load (Table 1). Etravirine pharmacokinetics in these pregnant women during the third trimester were similar to those of nonpregnant adults (Table 1) [3], suggesting that no dose adjustment is likely to be required for etravirine in the third trimester of pregnancy. Data on etravirine post-partum cord blood concentration and corresponding maternal blood plasma concentration were available for one patient (patient 4), with values of 112 and 339 ng/mL, respectively. The etravirine pharmacokinetic data we obtained are broadly similar to those reported for a pregnant woman receiving etravirine, darunavir/ritonavir and enfuvirtide, which also demonstrated the placental crossing of etravirine [4]. Although limited, our results support data reported for etravirine to date in the Antiretroviral Pregnancy Registry, where there was no apparent increase in the frequency of reported defects with etravirine based on the most recent interim report [5]. Importantly, the prevention of HIV transmission in our case series and in previous reports of etravirine and other agents during pregnancy supports the role of successful antiretroviral therapy in decreasing HIV perinatal transmission. Further investigation of etravirine in pregnant women is ongoing (trial TMC114-HIV-3015; clinicaltrials.gov identifier NCT00855335). The authors would like to express their gratitude to the patients and investigators, and thank E. Van Leengoed, PRA International, Assen, the Netherlands, for bioanalysis of etravirine. Medical writing support was provided by Emily de Looze (medical writer), Gardiner-Caldwell Communications, Macclesfield, UK. Funding for this support was provided by Tibotec Pharmaceuticals. Conflicts of interest: At the time of the study, Patricia Izurieta was a full-time employee of Tibotec. Thomas N. Kakuda, Caroline Feys and James Witek are full-time employees of Tibotec.

Correlation between serum uric acid levels and obstructive sleep apnea/hypopnea syndrome in children

To explore the level of serum uric acid (UA) in children with obstructive sleep apnea/hypopnea syndrome (OSAHS). Between Sep. 2008 and Mar. 2010, 138 children with OSAHS were enrolled in study group. Sixty-five children with accessory auricle or ptosis of upper lid were enrolled into the control group. Furthermore, according to apnea/hypopnea index (AHI) or obstructive apnea index (OAI) the study group was further divided into three subgroups (mild, moderate and severe group). At last, the study group and control group were divided into two groups according to the body mass index (BMI), separately. The fasting serum UA level was compared among the different groups. Then the correlation between the serum UA level and AHI, BMI, oxygen desaturation index, least arterial oxygen saturation (LSaO(2)) and the percentage of total sleep time with arterial oxygen saturation < 0.92 was also analyzed in OSAHS children with or without overweight and obesity respectively. The difference of serum UA level between the study group and control group (z = -0.443), and the difference among the three groups (χ(2) = 1.241) was not significant(P > 0.05). The serum UA level in overweight and obese children [study group, 273.0 (238.3 - 357.3); control group, 298.0 (253.0 - 336.0)] was significantly higher than that in children with normal BMI [study group, 246.5(215.8 - 300.0); control group, 266.0 (224.0 - 303.3)] (z = -2.084, -2.214, P < 0.05). That serum UA level did not correlate with the above index of OSAHS was observed in children with or without overweight and obesity in study group (P > 0.05). Findings of higher serum UA level were not observed in children with OSAHS. There was no correlation between serum UA level and the above indices of OSAHS. The serum UA level in overweight and obese children was significantly higher than that in children with normal BMI.