Anatomy-based diagnostic criteria for complex body wall anomalies (CBWA)

Precise diagnosis and classification of CBWA cases can be challenging. BSA are considered when there is a body wall anomaly, skeletal abnormalities, and the umbilical cord is anomalous, absent or rudimentary, and LBWC when there is a body wall and structural limb anomalies with or without craniofacial abnormalities.

PubMed was searched for body stalk anomalies, limb body wall complex, body stalk anomalies and amniotic band syndrome, and limb body wall complex and amniotic band syndrome. Sixty nine articles were selected and reviewed. This article systematically classifies the variants of CBWA in 218 cases, the study is based on the embryological and anatomical criteria established by Martín-Alguacil and Avedillo to study BSA in the pig.

Eight different BSA presentation were defined. One hundred and eighty nine cases were classified as BSA, from which five were Type I, nine Type II, 20 Type III, 57 Type IV, 11Type V, 24 Type VI, 11 Type VII, and 52 Type VIII. Twenty six cases presented cranial phenotype, 114 abdominal phenotype, 42 cranio/abdominal overlapping phenotype, and five without defined phenotype. In addition, 52 BSA cases presented some kind of spinal dysraphism (SPDYS) and were classified as BSA/SPDYS, most of these cases did not show structural limb anomalies, except for three cases and were classified as LBWC/SPDYS.

This morphology-based classification represents a useful tool for clinical diagnosis, it helps to quantify and to evaluate CBWA in a precise, objective manner.