[An autopsy case of Smith-Lemli-Opitz syndrome].
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.
Nagao
M
M
Department of Forensic Medicine, Faculty of Medicine, University of Tokyo, Japan.
Iwadate
K
K
Zhang
W D
WD
Takahashi
H
H
Yamada
Y
Y
Suzuki
H
H
Takatori
T
T
D000015:Abnormalities, Multiple / Q000473:pathology*; D002972:Cleft Palate / Q000473:pathology*; D004423:Ear / Q000002:abnormalities* / Q000473:pathology; D005260:Female; D006344:Heart Septal Defects, Atrial / Q000473:pathology*; D006801:Humans; D007223:Infant; D013154:Spleen / Q000002:abnormalities; D013577:Syndrome; D014034:Toes / Q000002:abnormalities* / Q000473:pathology; D014599:Uterus / Q000002:abnormalities