Genitopatellar syndrome: expanding the phenotype. Am J Med Genet A 2003 Sep 15;122A(1):80-3
Date
09/02/2003Pubmed ID
12949978DOI
10.1002/ajmg.a.20268Scopus ID
2-s2.0-0042819648 (requires institutional sign-in at Scopus site) 17 CitationsAbstract
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.
Author List
Lifchez CA, Rhead WJ, Leuthner SR, Lubinsky MSAuthor
Steven R. Leuthner MD Professor in the Pediatrics department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
FaciesGenes, Recessive
Genetic Diseases, Inborn
Genitalia, Male
Humans
Infant
Infant, Newborn
Intellectual Disability
Male
Patella
Phenotype
