Body stalk anomaly

Body stalk anomaly

Synonyms: Body stalk complex, Limb body wall complex, Cyllosomas.

Differential diagnosis

• Amniotic band syndrome
• Gastroschisis
• Omphalocele
• OEIS complex
• Pentalogy of Cantrell
• Cloacal exstrophy

	Amniotic band syndrome	Body stalk anomaly
Incidence	Rare, more common among spontaneous abortions	1: 7, 000 - 42, 000, more common in monozygotic twins
Genetic defect	Unknown	Unknown
Pathogenesis	Rupture of amnion, entrapment of fetal structures by sticky mesodermic bands that originate from the chorionic side of amnion	1) Amnion rupture 2) Vascular disruption 3) Embryonic malformation 4) Primary malformation of the body wall closure with it's fusion with the amnion during the 1st month of development
Clinical features	Early entrapment (18-24 days post conception): severe craniofacial and internal malformation Late entrapment: simple amputation or limb defects Severe cases difficult to distinguish from body stalk anomalies	2 distinct phenotypes: Craniofacial defect, amniotic bands (likely due to early vascular disruption) Abdominal wall defects, urogenital anomalies, anal atresia, spinal and limb defects, abdomino-placental attachment, short or absent umbilical cord (due to embryologic maldevelopment).