title: Prepubertal XX male with profound physical and mental deficiency, retinitis pigmentosa and multiple congenital anomalies.
abstract: A unique case of a prepubertal XX male with profound mental and physical retardation, retinitis pigmentosa, ambiguous genitalia and multiple congenital anomalies is reported. His clinical, genetic, dermatoglyphic and histological findings are presented. This case could represent a new multiple congenital malformation syndrome. Theories on XX male aetiology are briefly discussed.
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002452:Cell Count; D002675:Child, Preschool; D005260:Female; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D011859:Radiography; D012174:Retinitis Pigmentosa / Q000235:genetics; D012708:Sertoli Cells / Q000473:pathology; D012728:Sex Chromatin; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D012730:Sex Chromosomes; D012886:Skull / Q000000981:diagnostic imaging; D013577:Syndrome; D013737:Testis / Q000473:pathology; D014960:X Chromosome