Infant with midline thoracoabdominal schisis and limb defects

Patterns of severe abdominal wall defects: Insights into pathogenesis, delineation, and nomenclature

“…Therefore, the association with pentalogy of Cantrell (defects of the thoracoabdominal wall, heart, pericardium, anterior diaphragm, and sternum) could exist, in at least some of the cases. Similar cases, associating Cantrell pentalogy and limb defects, as well as facial clefts have previously been reported (Uygur et al, 2004; Pivnick et al, 1998). In the present material, ectopia cordis could be considered as a direct consequence of the extensive body wall defect, perhaps due to case selection, which only included severe abdominal wall defects.…”

Goltz syndrome: report of two severe cases

“…This case was previously reported by one of the authors (EKP) in 1998 5. Upon review of the case it is felt that this infant had Goltz syndrome.…”

“…We present two cases, one of which was presented previously as a midline thoracoabdominal schisis with limb defects5 that on re-evaluation was reclassified as Goltz syndrome. Because the genetic defect has now been identified2 , 3 a molecular diagnostic test can be obtained to confirm the diagnosis, facilitating improved genetic counselling and prenatal diagnosis in familial cases.…”

Phenotype and genotype in 17 patients with Goltz-Gorlin syndrome

“…In the limb–body wall complex in particular, there have been case reports of limb defects, including ectrodactyly 26 27 28. These have been explained as resulting from amniotic bands.…”