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Case Reports
. 1992 Feb 15;42(4):467-9.
doi: 10.1002/ajmg.1320420411.

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

J J van den Ende  1 , Y van Bever, E S Rodini, A Richieri-Costa
Affiliations
Case Reports

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

J J van den Ende et al. Am J Med Genet. .

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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