Case Reports
doi: 10.1002/ajmg.1320420411.
Marden-Walker-like syndrome without psychomotor retardation: report of a Brazilian girl born to consanguineous parents
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- PMID: 1609830
- DOI: 10.1002/ajmg.1320420411
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Case Reports
Marden-Walker-like syndrome without psychomotor retardation: report of a Brazilian girl born to consanguineous parents
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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