title: A new autosomal dominant syndrome of distinctive face showing ptosis and prominent eyes associated with cleft palate, ear anomalies, and learning disability.
abstract: We report on three patients from two families with apparently a novel clinical entity. The main features of which include unusual craniofacial dysmorphism with ptosis, prominent eyes, flat midface, Cupid's bow configuration of the upper lip, low-set, posteriorly rotated small ears, as well as conductive hearing loss, cleft palate, heart defect, and mild developmental delay. We suggest that this entity is an autosomal dominant disorder given the occurrence in a mother and daughter as well as in an unrelated boy.
authors.affiliation: Institut für Klinische Genetik, TU Dresden, Germany. nataliya.tyshchenko@tu-dresden.de
authors.forename: N
authors.initials: N
authors.lastname: Tyshchenko
authors.forename: T M
authors.initials: TM
authors.lastname: Neuhann
authors.forename: E
authors.initials: E
authors.lastname: Gerlach
authors.forename: G
authors.initials: G
authors.lastname: Hahn
authors.forename: K
authors.initials: K
authors.lastname: Heisch
authors.forename: A
authors.initials: A
authors.lastname: Rump
authors.forename: E
authors.initials: E
authors.lastname: Schrock
authors.forename: S
authors.initials: S
authors.lastname: Tinschert
authors.forename: K
authors.initials: K
authors.lastname: Hackmann
mesh_terms: D000015:Abnormalities, Multiple; D000328:Adult; D001763:Blepharoptosis; D002675:Child, Preschool; D025063:Chromosome Disorders / Q000235:genetics*; D002972:Cleft Palate; D019465:Craniofacial Abnormalities; D004423:Ear / Q000002:abnormalities; D005124:Eye Abnormalities; D005145:Face / Q000002:abnormalities; D005260:Female; D034381:Hearing Loss; D006330:Heart Defects, Congenital; D006801:Humans; D007223:Infant; D007859:Learning Disabilities; D008297:Male; D008875:Middle Aged; D013577:Syndrome