title: Cataracts, radiculomegaly, septal heart defects and hearing loss in two unrelated adult females with normal intelligence and similar facial appearance: confirmation of a syndrome?
abstract: Two unrelated, adult females with normal intelligence are described. They show a similar clinical picture with a long and narrow face, congenital cataract, microphthalmia, microcornea, a high nasal bridge, a short nose, a broad nasal tip, a long philtrum, bilateral hearing loss, persistent primary teeth, oligodontia, variable root length including dental radiculomegaly, heart defects and cutaneous syndactyly of the 2nd-3rd toes. Abnormalities present in only one of the two patients were a cleft palate and a transverse vaginal septum, respectively. There are numerous similarities between our two patients and the family described by Wilkie et al. ((1993): Clin Dysmorphol 2: 114-119) and all may be examples of the same entity.
authors.affiliation: Institute of Human Genetics, Academic Medical Center, Amsterdam, The Netherlands.
authors.forename: C M
authors.initials: CM
authors.lastname: Aalfs
authors.forename: J C
authors.initials: JC
authors.lastname: Oosterwijk
authors.forename: M J
authors.initials: MJ
authors.lastname: van Schooneveld
authors.forename: C J
authors.initials: CJ
authors.lastname: Begeman
authors.forename: K B
authors.initials: KB
authors.lastname: Wabeke
authors.forename: R C
authors.initials: RC
authors.lastname: Hennekam
mesh_terms: D000015:Abnormalities, Multiple; D000328:Adult; D002386:Cataract; D005145:Face / Q000002:abnormalities*; D005260:Female; D034381:Hearing Loss; D006330:Heart Defects, Congenital; D006801:Humans; D007360:Intelligence; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome; D014071:Tooth Abnormalities