2. Academic Validation
  3. Marden-Walker-like syndrome without psychomotor retardation: report of a Brazilian girl born to consanguineous parents

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

Affiliation

  • 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.

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