Genitopatellar syndrome: expanding the phenotype.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A(2003)
摘要
Genitopatellar syndrome is a recently described disorder with characteristic facies, genital anomalies, absent patella, flexion contractures, microcephaly, renal anomalies, and mental retardation. The presence of affected siblings in two of the original families suggests autosomal recessive inheritance. We report a new patient that exhibits all of these cardinal features and is also the second case to have additional, more severe findings including a congenital heart defect, anal anomalies, and features of an ectodermal dysplasia, thus expanding the phenotype to include these manifestations. (C) 2003 Wiley-Liss, Inc.
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关键词
genitopatellar syndrome,patella,scrotal hypoplasia,corpus callosum,mental retardation
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