[Congenital functional disorders of the hypothalamus caused by a development disorder of the prosencephalon].
The case histories of three boys with a micropenis, abnormal facial features and congenital hypopituitarism are described. Two of the boys in addition had congenital deformities of the feet. A prolonged neonatal jaundice or a neonatal hepatitis, and an abnormal mental development was also found. This complicated syndrome is caused by impaired development of the prosencephalon. The ensuing anatomical changes have been called holoprosencephaly. Early recognition of this syndrome rests on the micropenis and the abnormal facial features.
D000015:Abnormalities, Multiple; D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D003394:Craniofacial Dysostosis / Q000150:complications*; D005837:Genitalia, Male / Q000002:abnormalities*; D006130:Growth Disorders / Q000150:complications*; D006801:Humans; D007030:Hypothalamo-Hypophyseal System / Q000196:embryology*; D007231:Infant, Newborn; D008297:Male; D010907:Pituitary Hormones / Q000502:physiology; D013577:Syndrome
D010907:Pituitary Hormones
Aangeboren functiestoornissen van de hypothalamus berustend op een ontwikkelingsstoornis van het prosencephalon.