RESUMEN
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
Asunto(s)
Humanos , Masculino , Niño , Adulto , Disostosis/diagnóstico por imagen , Cabeza Femoral/anomalías , Articulación de la Cadera/anomalías , Coxa Vara/cirugía , Disostosis/cirugía , Osteotomía , Resultado del TratamientoRESUMEN
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
Asunto(s)
Humanos , Lactante , Femenino , Hipoplasia Dérmica Focal/complicaciones , Hipoplasia Dérmica Focal/genética , Enfermedades Genéticas Ligadas al Cromosoma X/genética , Deformidades Congénitas de las Extremidades/diagnóstico por imagen , Deformidades Congénitas de las Extremidades/complicaciones , FenotipoRESUMEN
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