RESUMO
Growth retardation, alopecia, pseudoanodontia, optic atrophy (GAPO) syndrome is a rare autosomal recessive disorder. The molecular nature of the disease is not fully understood and is considered to be one of the ectodermal dysplasia defects. In this report, we describe clinical, histologic, and ultrastructural features in two siblings born to consanguineous parents with a brief review of the literature.
Assuntos
Alopecia/patologia , Anodontia/patologia , Displasia Ectodérmica/patologia , Insuficiência de Crescimento/patologia , Atrofia Óptica/patologia , Alopecia/diagnóstico por imagem , Alopecia/genética , Anodontia/diagnóstico por imagem , Anodontia/genética , Criança , Pré-Escolar , Consanguinidade , Displasia Ectodérmica/diagnóstico por imagem , Displasia Ectodérmica/genética , Insuficiência de Crescimento/diagnóstico por imagem , Insuficiência de Crescimento/genética , Feminino , Genes Recessivos , Humanos , Masculino , Atrofia Óptica/diagnóstico por imagem , Atrofia Óptica/genética , Radiografia , Irmãos , SíndromeRESUMO
OBJECTIVES: To explore the extent of child abuse in Kuwait and examine the difficulties associated with its management. SUBJECTS AND METHODS: A retrospective analysis of the 60,640 medical records of children admitted to Al-Amiri and Mubarak Al-Kabeer Hospitals, Kuwait, between 1991 and 1998 was done. RESULTS: Of the 60,640 records, 16 children showed evidence of abuse. Of these, the perpetrator was a parent in 75% of the cases, which involved the following abuses: physical, 13; sexual, 2; and Munchausen syndrome by proxy in 1. Children with physical abuse had more than one type that included bruises (77%), burns (38%), intracranial haemorrhage (38%), fractures (23%) and cut wounds (15%). Seven of the children were returned to their biological parents, 7 were lost to follow-up and 2 died. CONCLUSION: Child abuse exists in Kuwait and is probably underreported. Management proceedings are not ideal and guidelines as well as legislation are needed.
