Genitopatellar syndrome: expanding the phenotype.
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.
Lifchez
Caroline A
CA
Department of Pediatrics, Section of Genetics, Children's Hospital of Wisconsin, Milwaukee, Wisconsin 53201, USA. clifchez@chw.org
Rhead
William J
WJ
Leuthner
Steven R
SR
Lubinsky
Mark S
MS
D019066:Facies; D005808:Genes, Recessive; D030342:Genetic Diseases, Inborn / Q000503:physiopathology*; D005837:Genitalia, Male / Q000002:abnormalities*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics / Q000503:physiopathology*; D008297:Male; D010329:Patella / Q000002:abnormalities*; D010641:Phenotype