Genitopatellar syndrome: a recognizable phenotype.
Genitopatellar syndrome is a newly described condition, subject of a single literature report to date. The condition comprises absent patellae, genital and renal malformations, joint dislocation, and mental retardation. Recurrence has been recorded in two kindreds, consistent with autosomal recessive inheritance.
Reardon
William
W
National Centre for Medical Genetics, Our Lady's Hospital for Sick Children, Crumlin, Dublin, Ireland. willie.reardon@olhsc.ie
D000015:Abnormalities, Multiple / Q000235:genetics; D061085:Agenesis of Corpus Callosum; D001176:Arthrogryposis / Q000235:genetics; D005832:Genital Diseases, Male / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D010329:Patella / Q000002:abnormalities*; D012611:Scrotum / Q000002:abnormalities*