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.
Unidad de Genética Médica, de la Facultad de Medicina de La Universidad del Zulia, Maracaibo, Venezuela. lisbor@iamnet.com
Wilmer Noé
WN
Delgado Luengo
María
M
Luisa Hernández Rodríguez
Ivonne
I
Valbuena Pirela
Sandra
S
González Ferrer
Pedro
P
Estrada Corona
Inara
I
Chacón Fonseca
Juana
J
Delgado Luengo
Alisandra
A
Morales-Machín
Lisbeth
L
Borjas Fuentes
María
M
Caridad Martínez Basalo
José
J
Chacín
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