Pescia G, Spahr A, Genton N, Juillard E
Helv Paediatr Acta. 1978 Apr;33(1):63-72.
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.
报告了一例青春期前XX男性的独特病例，该患者伴有严重的智力和身体发育迟缓、色素性视网膜炎、生殖器模糊及多种先天性异常。文中呈现了其临床、遗传、皮纹学及组织学检查结果。该病例可能代表一种新的多发性先天性畸形综合征。本文还简要讨论了XX男性病因学的相关理论。
