title: Sirenomelia with an uncommon osseous fusion associated with a neural tube defect.
abstract: 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.
authors.affiliation: Department of Obstetrics and Gynecology, Mackay Memorial Hospital, 92, Section 2, Chung-Shan North Road, Taipei, Taiwan, ROC.
authors.forename: C
authors.initials: C
authors.lastname: Chen
authors.forename: S L
authors.initials: SL
authors.lastname: Shih
authors.forename: S W
authors.initials: SW
authors.lastname: Jan
authors.forename: Y N
authors.initials: YN
authors.lastname: Lin
mesh_terms: D004480:Ectromelia / Q000150:complications* / Q000473:pathology; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D009436:Neural Tube Defects / Q000150:complications* / Q000473:pathology