RESUMO
We report on a-6-months-old girl who manifested the phenotypic features of focal dermal hypoplasia. Significant limb deformities in connection with typical skin changes were documented. The family history had a high frequency of spontaneous abortions and male stillbirths. Male stillbirths are a landmark in favour of X-linked dominant pattern of inheritance. Despite the severe hand/foot deformities, the skull base and the tubular bones were sclerotic
Assuntos
Humanos , Lactente , Feminino , Hipoplasia Dérmica Focal/complicações , Hipoplasia Dérmica Focal/genética , Doenças Genéticas Ligadas ao Cromossomo X/genética , Deformidades Congênitas dos Membros/diagnóstico por imagem , Deformidades Congênitas dos Membros/complicações , FenótipoAssuntos
Tornozelo/anormalidades , Estatura , Osso e Ossos/anormalidades , Criança , Feminino , Hipoplasia Dérmica Focal/complicações , Transtornos do Crescimento/complicações , Humanos , Deformidades Congênitas dos Membros/complicações , Escoliose/complicações , Sindactilia/complicações , Dedos do Pé/anormalidades , Anormalidades Dentárias/complicaçõesRESUMO
We report a term, small for gestational age neonate having full spectrum of VACTERL association. In addition, the neonate also had triad of signs and symptoms associated with prune belly syndrome. The concurrence of these two syndromes could lie in their common etiology of defect in mesodermal differentiation. Such a combination is extremely rare and is generally incompatible with life.