Ceelie N, Steendijk R
Tijdschr Kindergeneeskd. 1981 Apr;49(2):66-73.
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.
本文描述了三名患有小阴茎、面部特征异常和先天性垂体功能减退的男孩的病历。其中两名男孩还患有足部先天性畸形。此外，还发现了持续性新生儿黄疸或新生儿肝炎以及异常的智力发育。这种复杂的综合征是由前脑发育受损引起的。随之而来的解剖学变化被称为全前脑畸形。对该综合征的早期识别依赖于小阴茎和异常的面部特征。
