title: A new autosomal recessive oto-facial syndrome with midline malformations.
abstract: 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.
authors.affiliation: Unité de Génétique Médicale, Laboratoire de Biologie Moléculaire et Cytogénétique, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon. megarban@dm.net.lb
authors.forename: André
authors.initials: A
authors.lastname: Mégarbané
authors.forename: Eliane
authors.initials: E
authors.lastname: Chouery
authors.forename: Simon
authors.initials: S
authors.lastname: Rassi
authors.forename: Valérie
authors.initials: V
authors.lastname: Delague
mesh_terms: 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