RESUMO
We describe a rare case of unilateral development of coxa vara secondary to metaphyseal dysostosis encountered in a 6-year-old boy. Family history and radiographic documentation revealed a 31-year-old father with a typical clinical history. Proximal femoral intertrochanteric valgus osteotomy and a revision cup [Allofit] have been performed for the child and his father respectively
Assuntos
Humanos , Masculino , Criança , Adulto , Disostoses/diagnóstico por imagem , Cabeça do Fêmur/anormalidades , Articulação do Quadril/anormalidades , Coxa Vara/cirurgia , Disostoses/cirurgia , Osteotomia , Resultado do TratamentoRESUMO
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 , FenótipoRESUMO
We report the case of a girl-child who manifested the clinicoradiographic features of pseudorheumatoid arthritis. 3D-CT scan of the craniocervical junction showed distinctive features of dystopic type of os odontoideum. The report highlights the necessity to explore the craniocervical junction in patients with progressive pseudorheumatoid arthropathy