AI Article Synopsis
- A 4,000 g baby girl presented with multiple severe congenital anomalies, including duplicated lower limbs and pelvis, spina bifida, and various issues in the digestive and renal systems.
- The medical team hypothesizes that this case represents a new instance of disorganization in humans (DsH), indicating a significant developmental defect.
- The pattern of malformations suggests that the abnormalities likely originated during early developmental stages (blastogenesis), affecting multiple body structures and systems derived from all germ layers.
Article Abstract
We describe a baby girl of 4,000 g and 55 cm with supernumerary, malformed, and partially duplicated lower limbs, malformed and partially duplicated pelvis, spina bifida, coccygeal dermal sinus, ectopic anus located in the right buttock, duplicated internal genitalia, rectovaginal fistula, ileal atresia, Meckel diverticulum, and various renal system anomalies. We think that this phenotype is a new case of disorganization in humans (DsH) and postulate that this condition constitutes a polytopic defect of the blastogenesis. In this case, the presence of a malformation pattern involving structures in different parts of the body and organs derived from all of the germ layers, suggests that the pathogenetic event most probably occurred during blastogenesis affecting various progenitors fields.
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| http://dx.doi.org/10.1002/ajmg.a.20307 | DOI Listing |
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