Brachycephalosyndactyly with ptosis, cataract, colobomas, and linear areas of skin depigmentation

R. Mingarelli, V. Mokini, A. C. Scanderbeg, B. Dallapiccola

Research output: Contribution to journalArticlepeer-review

Abstract

A male patient with brachycephalosyndactyly syndrome associated with ocular and skin anomalies is reported and it is suggested that this patient has a previously undescribed disorder.

Original languageEnglish
Pages (from-to)73-75
Number of pages3
JournalClinical Dysmorphology
Volume8
Issue number1
Publication statusPublished - 1999

Keywords

  • Acrocephalosyndactyly
  • Cataract
  • Coloboma
  • Curry Jones syndrome
  • Saethre-Chotzen syndrome
  • Skin depigmentation

ASJC Scopus subject areas

  • Anatomy
  • Genetics(clinical)
  • Pediatrics, Perinatology, and Child Health

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