Sirenomelia with an uncommon osseous fusion associated with a neural tube defect

• Published in: Pediatric radiology Vol. 28; no. 5; pp. 293 - 296
• Main Authors: CHEN, C.-P, SHIH, S.-L, JAN, S.-W, LIN, Y.-N
• Format: Conference Proceeding Journal Article
• Language: English
• Published: Berlin Springer 01.05.1998; Springer Nature B.V
• Subjects: Anorectal; Biological and medical sciences; Diseases of the osteoarticular system; Ectromelia - complications; Ectromelia - pathology; Female; Humans; Infant, Newborn; Malformations and congenital and or hereditary diseases involving bones. Joint deformations; Medical sciences; Neural Tube Defects - complications; Neural Tube Defects - pathology; Human; Nervous system diseases; Melting; Diseases of the osteoarticular system; Congenital disease; Case study; Dysmorphism; Newborn; Neural tube; Sirenomelus; Malformation; Central nervous system disease; Bone; Spinal cord disease
• ISSN: 0301-0449; 1432-1998
• DOI: 10.1007/s002470050355

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.