Human disorganization complex, as a polytopic blastogenesis defect: a new case.
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.
Delgado Luengo
Wilmer Noé
WN
Unidad de Genética Médica, de la Facultad de Medicina de La Universidad del Zulia, Maracaibo, Venezuela. lisbor@iamnet.com
Luisa Hernández Rodríguez
María
M
Valbuena Pirela
Ivonne
I
González Ferrer
Sandra
S
Estrada Corona
Pedro
P
Chacón Fonseca
Inara
I
Delgado Luengo
Juana
J
Morales-Machín
Alisandra
A
Borjas Fuentes
Lisbeth
L
Caridad Martínez Basalo
María
M
Chacín
José
J
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000196:embryology / Q000235:genetics*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008159:Lumbar Vertebrae / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000196:embryology; D008213:Lymphocyte Activation / Q000235:genetics*; D009024:Morphogenesis; D011859:Radiography; D013577:Syndrome