RESUMEN
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.
Asunto(s)
Acondroplasia/complicaciones , Niño , Diagnóstico Diferencial , Errores Diagnósticos , Enanismo/complicaciones , Epífisis/anomalías , Femenino , Heterocigoto , Humanos , Osteocondrodisplasias/complicaciones , Raquitismo/diagnósticoRESUMEN
Wildervanck syndrome i.e. cervico (Klippel-Feil anomalad) -oculo (Duane-Stilling-Turk phenomenon with bilateral abducens palsy)-acoustic (deafness) is a rare syndrome. We report here 4 cases diagnosed as Wildervanck syndrome and analyse their findings. One patient had an an atrial septal defect. Such association of congenital heart disease with Wildervanck syndrome has not been reported previously.