Fetopathology and developmental pathology of the embryo and fetus: Limb-body wall complex

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+ Support

+ Atlas of fetal pathology

+ Congenital malformations of individual organ systems

Limb-body wall complex

Clinical signs

probably caused by early amniotic rupture
includes
- amnial bands
- encephalocele
- meningomyelocele
- reduction defects of the limbs
- facial clefts
- defects of abdominal and thoracic wall

Case study

Limb body wall complex

Marta Ježová

History

Screening triple test in 16 week of gestation — maternal serum alpha fetoprotein (AFP) was elevated. Congenital maformations involving most fetal organs were subsequently detected by ultrasound.

Macroscopic appearance

20-week fetus
abdominal and thoracic wall defect
eventration of small and large intestine, stomach, liver, spleen, adrenals, kidneys and right lung
exencephaly (brain is exposed through defect in cranial vault)
unilateral cleft lip
limb defects:
- rocker bottom feet — prominující paty
- hypodactyly in left lower limb
- syndactyly in right lower limb
- hypoplastic thumb in right upper limb
severe torsion and scoliosis of the spine, chest wall deformity
heart malformation:
- ectopia cordis
- transposition of great vessels with ventricular septal defect
- pulmonary atresia
fusion of adrenals
intrauterine growth retardation
umbilical cord:
- extremely short (5 cm long)
- single umbilical artery
no amniotic bands

Pictures

Abdominal and thoracic wall defect, eventration of abdominal and thoracic organs, exencephaly, cleft lip, intrauterine growth retardation: Abdominal and thoracic wall defect, Macro, autopsy (72700)

Lower limb malformation — rocker bottom foot: Rocker bottom foot, Macro, autopsy (72701)

Upper limb malformation — hypoplastic thumb: Hypoplastic thumb, Macro, autopsy (72702)

Lower limb malformation — hypodactyly: Hypodactyly, Macro, autopsy (72704)

Protrusion of internal organs, ectopia cordis: Protrusion of internal organs, ectopia cordis, Macro, autopsy (72703)

Fetus viewed from the dorsal aspect, curvature of body line: Curvature of body line, Macro, autopsy (72705)

Severe scoliosis, chest wall deformity: Severe scoliosis, Macro, autopsy (72708)

Heart defect: aorta arising from right ventricle, ventricular septal defect: Aorta arising from right ventricle, VSD, Macro, autopsy (72707)

Heart defect: anomalous origin of great arteries seen in heart base, hypoplastic truncus pulmonalis: Anomalous origin of great arteries, Macro, autopsy (72706)

Ultrasound examination: Limb body wall complex, Ultrasound (72716) Limb body wall complex, Ultrasound (72717)