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![]() The family comprised 3 generations with several affected members ( Figure 2). After performing successful unilateral surgery for the congenital conductive hearing impairment, we received permission to conduct a clinical investigation of his family. A congenital anomaly of the ossicular chain was suspected in view of the accompanying bilateral small dysmorphic auricles ( Figure 1, E). The proband (the eldest of 6 children) was referred to the Department of Otorhinolaryngology, University Hospital Nijmegen, Nijmegen, the Netherlands, because of a unilateral congenital conductive hearing impairment. The anomalies are presumably developmental defects in the first and second branchial arch that occurred during the sixth and seventh weeks of gestation, resulting in an auricle abnormality (first and second arch) and an abnormal incus and stapes (first and second arch). ![]() We found bilateral dysmorphic small pinnae, congenital conductive hearing impairment, and lip pits or dimples. The results of clinical examination of the 3 generations of the present family suggest a new autosomal dominant inherited syndrome. 3 The latter syndrome can be differentiated from the above-mentioned syndromes, 1 but in the case of incomplete penetrance, this differentiation may be difficult in some individuals. Individuals with this syndrome described by Marres and Cremers 2 have ear pits, lop-ears, congenital hearing impairment, and commissural lip pits. ![]() Another rare branchiogenic syndrome has been described only in combination with other characteristics, such as pinnal abnormalities, congenital hearing impairment, and lip pits. All these branchiogenic syndromes affect multiple organs. 1 Some branchiogenic syndromes occur fairly frequently and are well delineated, such as the autosomal dominant inherited branchio-oto-renal (BOR) syndrome, the autosomal dominant inherited Treacher Collins syndrome (mandibulofacial dysostosis), and hemifacial microsomia (oculoauriculovertebral spectrum). More than 50 genetic syndromes with congenital conductive hearing impairment have been reported. Two subjects also had congenital conductive hearing impairment. Three subjects had a dimple or pit in the lip. Seven members of the family had bilateral dysmorphic small auricles. These autosomal dominant inherited branchial anomalies represent a separate branchial arch syndrome as confirmed by gene linkage studies. THREE GENERATIONS of a family were examined for congenital conductive hearing impairment, dysmorphic small auricles, and lip pits.
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