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

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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.

Original languageEnglish
Pages (from-to)93-103
Number of pages11
JournalClinical dysmorphology
Volume5
Issue number2
Publication statusPublished - Apr-1996

Keywords

  • cataract
  • microphthalmia
  • oligodontia
  • radiculomegaly
  • hearing loss
  • congenital heart defect
  • CONGENITAL-RUBELLA SYNDROME
  • MIDDLE-EAR ANOMALIES
  • NANCE-HORAN SYNDROME
  • MURCS ASSOCIATION
  • MICROPHTHALMIA
  • COLOBOMA
  • FAMILY

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