A new autosomal recessive oto-facial syndrome with midline malformations.
Two sisters from a Lebanese family presented with slight developmental delay, short stature, congenital microcephaly, frontal bossing, mild hyperplastic supra-orbital ridges, broad nasal root, small dysplastic low-set ears, high arched palate, short neck, and hearing impairment. In addition, the oldest affected sister had esophageal atresia and the other sister had cleft palate. Temporal bone abnormalities included hypoplasia of the external auditory canal, small middle ear cavity, abnormal ossicles, and inner ear malformations with enlarged vestibular acqueducts. Differential diagnosis is discussed, and the possibility of a newly recognized autosomal recessive syndrome is raised.
Mégarbané
André
A
Unité de Génétique Médicale, Laboratoire de Biologie Moléculaire et Cytogénétique, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon. megarban@dm.net.lb
Chouery
Eliane
E
Rassi
Simon
S
Delague
Valérie
V
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D002972:Cleft Palate / Q000473:pathology; D003241:Consanguinity; D004423:Ear / Q000002:abnormalities*; D004933:Esophageal Atresia / Q000473:pathology; D005145:Face / Q000002:abnormalities*; D005147:Facial Bones / Q000002:abnormalities; D005192:Family Health; D005260:Female; D005808:Genes, Recessive / Q000235:genetics*; D006801:Humans; D013577:Syndrome; D013701:Temporal Bone / Q000002:abnormalities