Rare manifestations of sirenomelia syndrome: a report of five cases.
Five cases of sirenomelia presented with rare manifestations are discussed. Three neonates were born alive and died within 2 to 12 hours after birth. One case was the offspring of a triple in vitro fertilization pregnancy with history of early intrauterine death of one of the triplets. The main features included fusion of lower extremities (five of five), renal agenesis (three of five), polycystic renal dysplasia (two of five), anal atresia with large bowel hypoplasia (three of five), pulmonary hypoplasia (four of five), and single umbilical artery (five of five). Other features that have only rarely been associated with sirenomelia included concurrence of congenital heart disease and neuroblastoma, gallbladder agenesis, and upper extremity defects.
Drossou-Agakidou
Vasiliki
V
Department of Neonatology, Aristotle University of Thessaloniki, Greece.
Xatzisevastou-Loukidou
Chariklia
C
Soubasi
Vasiliki
V
Kostopoulou
Eyanthia
E
Laporda
Alexandra
A
Pantzaki
Afroditi
A
Agelidou
Stamatia
S
Kremenopoulos
Georgios
G
D000015:Abnormalities, Multiple; D004480:Ectromelia / Q000150:complications / Q000175:diagnosis*; D005260:Female; D005307:Fertilization in Vitro; D005313:Fetal Death; D006330:Heart Defects, Congenital / Q000150:complications; D006801:Humans; D007223:Infant; D008297:Male; D009447:Neuroblastoma / Q000150:complications; D014310:Triplets