Marden-Walker-like syndrome without psychomotor retardation: report of a Brazilian girl born to consanguineous parents

  • Am J Med Genet. 1992 Feb 15;42(4):467-9. doi: 10.1002/ajmg.1320420411.
J J van den Ende  1 ,  Y van Bever ,  E S Rodini ,  A Richieri-Costa
Affiliations
  • 1. Serviço de Genética Clínica, Hospital de Pesquisa e Reabilitação de Lesões Lábio-Palatais, Universidade de São Paulo, Bauru, Brazil.
PMID: 1609830 DOI: 10.1002/ajmg.1320420411
Abstract

We report on a Brazilian girl, born to consanguineous parents and presenting a multiple congenital anomaly (MCA) syndrome, mainly characterized by blepharophimosis, cleft palate, and arachnodactyly. The clinical aspects involving this patient suggest an apparently undescribed "new" autosomal recessive syndrome.