An autopsy case of Smith-Lemli-Opitz syndrome
Nagao, M.; Iwadate, K.; Zhang, W.D.; Takahashi, H.; Yamada, Y.; Suzuki, H.; Takatori, T.
Nihon Hoigaku Zasshi 48(4): 274-278
1994
ISSN/ISBN: 0047-1887 PMID: 7967168 Document Number: 438512
A 17 month-old girl was found dead in her bed. The findings of a juditial autopsy revealed that she had a cleft palate, low-set and accessory ears, and syndactyly of right and left second and third toes and right third and fourth toes. Her birth size was small and subsequently she failed to thrive. Organ anomaly, such as atriaol septal defect, accessory spleens, and uterus bicornis bicollis were found. From these findings, this case was diagnosed as a Smith-Lemli-Opitz syndrome.