Pseudoachondroplastic dysplasia.

A Khungar; P Mahajan; G Gupte; M Vasundhara; A Kher; B A Bharucha

PubMed · 8169872

Pseudoachondroplastic dysplasia.

A Khungar·P Mahajan·G Gupte·M Vasundhara·A Kher·B A Bharucha

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.

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Achondroplasia Child Diagnosis, Differential Diagnostic Errors Dwarfism Epiphyses Female Heterozygote Humans Osteochondrodysplasias Rickets Case Reports Journal Article Review

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A Khungar, P Mahajan, G Gupte, M Vasundhara, A Kher, B A Bharucha. Pseudoachondroplastic dysplasia.. https://pubmed.ncbi.nlm.nih.gov/8169872/

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