Cataracts, radiculomegaly, septal heart defects and hearing loss in two unrelated adult females with normal intelligence and similar facial appearance: Confirmation of a syndrome

CM Aalfs, JC Oosterwijk, MJ VanSchooneveld, CJ Begeman, KB Wabeke, RCM Hennekam

OnderzoeksoutputAcademicpeer review

24 Citaten (Scopus)


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.

Originele taal-2English
Pagina's (van-tot)93-103
Aantal pagina's11
TijdschriftClinical dysmorphology
Nummer van het tijdschrift2
StatusPublished - apr-1996

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