Sirenomelia with an uncommon osseous fusion associated with a neural tube defect.
A sireniform infant presented with an uncommon osseous fusion of the lower limbs characterised by a fused femur, a partially fused tibia and sympus dipus with rudimentary digits and metatarsals. Associated abnormalities included sacral agenesis, a deformed pelvis, anorectal atresia, renal agenesis, cystic renal dysplasia, agenesis of the uterus and urinary bladder, ambiguous external genitalia, a single umbilical artery, a lumbosacral neural tube defect, and ventriculomegaly secondary to a Chiari II malformation. The pathogenesis of concurrent sirenomelia and neural tube defect is discussed.
Chen
C
C
Department of Obstetrics and Gynecology, Mackay Memorial Hospital, 92, Section 2, Chung-Shan North Road, Taipei, Taiwan, ROC.
Shih
S L
SL
Jan
S W
SW
Lin
Y N
YN
D004480:Ectromelia / Q000150:complications* / Q000473:pathology; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D009436:Neural Tube Defects / Q000150:complications* / Q000473:pathology