RESUMO
Wharton's jelly is a specialized tissue which acts as supportive and protective structure substituting for the adventitia of the umbilical vessels. Absence of Wharton's jelly around the umbilical arteries is very rare and an unusual cause of perinatal mortality. We report a case of absent Wharton's jelly around the umbilical arteries with patent vitellointestinal duct--a rare association.
Assuntos
Adulto , Feminino , Soropositividade para HIV , Humanos , Recém-Nascido , Masculino , Gravidez , Resultado da Gravidez , Ultrassonografia Pré-Natal , Artérias Umbilicais/anormalidades , Cordão Umbilical/patologiaRESUMO
Fibrochondrogenesis is a rare lethal short-limb skeletal dysplasia. Till now only fifteen cases have been reported since Lazzaroni-Fossati first described it in 1978. Hence reported a case of fibrochondrogenesis in a child born to a consanguineously married couple with characteristic physical and radiological features and discuss the incidence, inheritance, ultrasonographic, clinical, radiological and pathological characteristics of this disorder.
Assuntos
Consanguinidade , Nanismo/diagnóstico , Genes Recessivos , Humanos , Recém-Nascido , Masculino , Osteocondrodisplasias/diagnósticoRESUMO
Osteopetrosis is a hereditary bone disease with intense positive balance of body calcium. Infantile variety is often associated with rickets--a paradoxical association. Two siblings with osteopetro rickets are reported in the article. The pathophysiologic mechanism of the paradoxical association has been explained and various management options have been discussed. Both cases were treated with high dose calcitriol and calcium supplements.