Pseudoachondroplastic dysplasia.
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.
Khungar
A
A
Dept of Pediatrics, Seth GS Medical College, Bombay, Maharashtra.
Mahajan
P
P
Gupte
G
G
Vasundhara
M
M
Kher
A
A
Bharucha
B A
BA
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