[An unrecognized etiology of sexual ambiguity: Smith-Lemli-Opitz syndrome or a new entity?].
The authors report three cases of a new syndrome which characteristic anomalies are facial dysmorphism with anteverted nose, down slanting palpebral fissures, ptosis, severe microretrognatia, polydactyly. The authors insist on the particular severe genital anomalies, the failure to thrive and the constant lethal issue. The authors discuss the diagnosis of Smith-Lemli-Opitz syndrome and suggest the possibility of a new entity always confounded with others associations characterized by a polydactyly and a sexual reversion in male.
D000015:Abnormalities, Multiple / Q000235:genetics; D012734:Disorders of Sex Development / Q000209:etiology* / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D013577:Syndrome
Une étiologie méconnue de l'ambiguïté sexuelle: syndrome de Smith-Lemli-Opitz ou entité nouvelle?