title: Pseudoachondroplastic dysplasia.
abstract: 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.
authors.affiliation: Dept of Pediatrics, Seth GS Medical College, Bombay, Maharashtra.
authors.forename: A
authors.initials: A
authors.lastname: Khungar
authors.forename: P
authors.initials: P
authors.lastname: Mahajan
authors.forename: G
authors.initials: G
authors.lastname: Gupte
authors.forename: M
authors.initials: M
authors.lastname: Vasundhara
authors.forename: A
authors.initials: A
authors.lastname: Kher
authors.forename: B A
authors.initials: BA
authors.lastname: Bharucha
mesh_terms: D000130:Achondroplasia / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D002648:Child; D003937:Diagnosis, Differential; D003951:Diagnostic Errors; D004392:Dwarfism / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D004838:Epiphyses / Q000002:abnormalities; D005260:Female; D006579:Heterozygote; D006801:Humans; D010009:Osteochondrodysplasias / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D012279:Rickets / Q000175:diagnosis