[Hirschsprung-Galant infantilism].
Report about a 17 1/2 year-old girl with severe mental retardation, dwarfism, hypogenitalism and short segment type of HIRSCHSPRUNG's disease, abortive SMITH-LEMLI-OPITZ syndrome is supposed. Literature about etiology and genetics of HIRSCHSPRUNG's disease is reviewed.
Fehlow
P
P
Bezirkskrankenhaus für Psychiatrie und Neurologie Mühlhausen.
Walther
F
F
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D000293:Adolescent; D005260:Female; D006627:Hirschsprung Disease / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007006:Hypogonadism / Q000175:diagnosis* / Q000235:genetics; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics; D013577:Syndrome
HIRSCHSPRUNG-GALANTscher Infantilismus.