![]() His unaffected father was also heterozygous for the mutation, which was not found in the gnomAD database. (2022) performed whole-exome sequencing in an Australian boy (patient 39) with auriculocondylar syndrome (see ARCND3, 615706) and identified heterozygosity for a c.3G-C transversion in the EDN1 gene. The mutations segregated with disease in both families. (2013) performed whole-exome sequencing and identified heterozygosity for a missense (V64D 131240.0004) and a nonsense (Y83X 131240.0005) mutation in the EDN1 gene, respectively. (2013) and found to be negative for mutation in the coding regions of the GNAI3 (139370), PLCB4 (600810), GNAQ (600998), and GNA11 (139313) genes and the catalytic domain exons of the PLCB3 gene (600230), Gordon et al. In 2 unrelated patients from families with isolated question mark ears that were previously studied by Gordon et al. The authors were not able to assess mandibular x-rays in this family, but there were no external signs of micrognathia. The daughter had been treated for acute lymphoblastic leukemia. In a family of African origin (case 12), the mother displayed a notch at the lobe-helix junction, and her son and daughter each had protruding helices and clefting, or constriction, between the lobe and helix. X-rays of the mandible of the daughter at 2 years of age did not reveal any obvious anomalies. No overt signs of mandibular hypoplasia were evident. Her daughter displayed bilateral clefting between the lobe and helix. In a family from Armenia (case 11), the mother presented with a significant notch in the border of the helix, at the lobe-helix junction, bilaterally. (2013) studied 2 families with isolated question mark ears. Affected members of this family were later found to have auriculocondylar syndrome-2 (ARCND2 614669). (2008) reported a 3-generation family segregating question mark ears in an autosomal dominant pattern the proband and her paternal grandfather were bilaterally affected, whereas her father had only a right-sided deformity. ![]() Al-Qattan (1998) suggested that this anomaly be designated Cosman deformity of the auricle. There was no family history of ear abnormalities in either case. The second was a 5-year-old Saudi girl with bilateral question mark ears, who also had another area of helical deficiency just superior to the Darwinian tubercle on the right ear, but no skin dimples her hearing was normal. The first was a 5-year-old girl of Sudanese origin with a left ear deformity and a shallow 2-mm skin dimple on the posterior surface of the ear, who had a normal-appearing eardrum and normal hearing. The author published photographs of the single case reported by Fumiiri and Hyakusoku (1983), with a unilateral ear defect that exhibited near identity to the previously depicted cases.Īl-Qattan (1998) reported 2 unrelated girls with question mark ears. Cosman (1984) stated that 8 or 9 cases of question mark ears had been reported, some of which were associated with other anomalies (see, e.g., auriculocondylar syndrome, 602483). (1970), both of whom underwent repair of their ears with good cosmetic results. The boy had an apparently identical twin brother with completely normal ears.Ĭosman (1984) provided follow-up on the 2 patients described by Cosman et al. The other patient was a 5-year-old black boy who had the same defect of the ears bilaterally, with a shallow 2-mm skin dimple posteriorly bilaterally and a skin tag on the left. There was no family history of ear abnormalities. The first was a 38-year-old Puerto Rican man who had a unilateral deformity of the left ear, with prominence and protrusion of the upper third of the ear, an apparent absence of the helix and distal scapha in the middle third, and disjunction of the otherwise normal lobule from the rest of the ear in the lower third. (1970) described 2 unrelated patients with question mark ears.
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