title: Genitopatellar syndrome: expanding the phenotype.
abstract: 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.
authors.affiliation: Department of Pediatrics, Section of Genetics, Children's Hospital of Wisconsin, Milwaukee, Wisconsin 53201, USA. clifchez@chw.org
authors.forename: Caroline A
authors.initials: CA
authors.lastname: Lifchez
authors.forename: William J
authors.initials: WJ
authors.lastname: Rhead
authors.forename: Steven R
authors.initials: SR
authors.lastname: Leuthner
authors.forename: Mark S
authors.initials: MS
authors.lastname: Lubinsky
mesh_terms: 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