RESUMO
Las displasias esqueléticas son un grupo muy heterogéneo de trastornos que se caracterizan por una alteración en la organización del tejido óseo, lo que causa una distorsión en su patrón de crecimiento y desarrollo. En 1998, se descibió el caso de cuatro hermanos japoneses, tres varones y una hembra que presentaban una displasia espóndilo-epifisiaria, no descrita anteriormente, asociada con cráneo-sinostosis, cataratas, paladar hendido y retardo mental de diferente grado. Se planteó una probable herencia autosómica recesiva, debido a que las alteraciones afectaban a ambos sexos y los padres eran fenotípicamente sanos, aunque con discreto retardo mental; sin embargo, no fue posible descartar un mosaicismo germinal. El caso que se presenta, trata de un paciente con signos clínicos y radiológicos que coinciden con los previamente descritos. Es producto de padres consanguíneos en la segunda generación, lo cual se sumaría a la presunción ya postulada, de una probable mutación de herencia autosómica recesiva. La presente comunicación, representa el segundo reporte en la literatura, del quinto caso descrito y el segundo grupo familiar con la afección mencionada.
Skeletal dysplasias are a heterogeneous group of disorders characterized by an alteration of the organization of osseous tissue causing a distortion on the growth and development pattern of bones. In 1998, four Japanese sibs were described by the first time, three males and one female who presented a previously undescribed spondylo-epiphyseal dysplasia associated with craniosynostosis, cataracts, cleft palate and different grades of mental retardation. A probable autosomic recessive inheritance was suggested, but a germinal mosaicism could not be discarded. This is a case report of a patient with clinical and radiological findings similar to the ones previously described, born to second degree consanguineous parents. This supports the postulated presumption of a mutation with an autosomic recesive inheritance. The present comunication represents the fifth case reported in the literature and the second familiar group affected.
Assuntos
Adulto , Feminino , Humanos , Recém-Nascido , Masculino , Anormalidades Múltiplas/genética , Fissura Palatina/genética , Craniossinostoses/genética , Deficiência Intelectual/genética , Osteocondrodisplasias/genética , Aborto Espontâneo , Consanguinidade , Catarata/genética , Fenda Labial/genética , Colágeno/genética , Genes Recessivos , Transtornos do Crescimento/genética , Linhagem , SíndromeRESUMO
Skeletal dysplasias are a heterogeneous group of disorders characterized by an alteration of the organization of osseous tissue causing a distortion on the growth and development pattern of bones. In 1998, four Japanese sibs were described by the first time, three males and one female who presented a previously undescribed spondylo-epiphyseal dysplasia associated with craniosynostosis, cataracts, cleft palate and different grades of mental retardation. A probable autosomic recessive inheritance was suggested, but a germinal mosaicism could not be discarded. This is a case report of a patient with clinical and radiological findings similar to the ones previously described, born to second degree consanguineous parents. This supports the postulated presumption of a mutation with an autosomic recessive inheritance. The present communication represents the fifth case reported in the literature and the second familiar group affected.
Assuntos
Anormalidades Múltiplas/genética , Fissura Palatina/genética , Craniossinostoses/genética , Deficiência Intelectual/genética , Osteocondrodisplasias/genética , Aborto Espontâneo , Adulto , Catarata/genética , Fenda Labial/genética , Colágeno/genética , Consanguinidade , Feminino , Genes Recessivos , Transtornos do Crescimento/genética , Humanos , Recém-Nascido , Masculino , Linhagem , SíndromeRESUMO
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.
