RESUMO
Pseudoachondroplasia is a heterogeneous inherited skeletal dysplasia in which dwarfism is a major feature. We report here a case of a 7 year old girl misdiagnosed as rickets, who presented with short stature, lordosis, genu varum and flexion deformities at both the elbows. Skeletal survey revealed epiphyseal and metaphyseal irregularities. A review of literature is also presented.
Assuntos
Nanismo/complicações , Osteocondrodisplasias/complicações , Acondroplasia/complicações , Acondroplasia/diagnóstico , Acondroplasia/genética , Criança , Diagnóstico Diferencial , Erros de Diagnóstico , Nanismo/diagnóstico , Nanismo/genética , Epífises/anormalidades , Feminino , Heterozigoto , Humanos , Osteocondrodisplasias/diagnóstico , Osteocondrodisplasias/genética , Raquitismo/diagnósticoRESUMO
MURCS association (Mullerian hypoplasia/aplasia, renal agenesis and cervicothoracic somite dysplasia) is emerging as the second most frequent cause of primary amenorrhoea after Turner syndrome. Seven cases have been described and analysed. All cases had absence of uterus and tubes 85% had cervical spine abnormalities such as vertebral fusion, hypoplasia of vertebrae or butterfly vertebrae and short stature and 28% had renal agenesis or ectopy. The latter finding is in contrast to the reports in world literature where the frequency of renal agenesis is higher. There was no familial incidence in these seven cases lending credence to the belief that the association is essentially sporadic.