Pictorial Essay

Pseudoachondroplasia: Report on a South African family

Shahida Moosa, Gen Nishimura
South African Journal of Radiology | Vol 17, No 2 | a247 | DOI: https://doi.org/10.4102/sajr.v17i2.247 | © 2013 Shahida Moosa, Gen Nishimura | This work is licensed under CC Attribution 4.0
Submitted: 24 February 2013 | Published: 11 June 2013

About the author(s)

Shahida Moosa, Division of Human Genetics, National Health Laboratory Service and School of Pathology, University of the Witwatersrand, Johannesburg, South Africa
Gen Nishimura, Department of Pediatric Imaging, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan


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Abstract

Pseudoachondroplasia is an autosomal dominant skeletal dysplasia that results in disproportionately short stature, severe brachydactyly with strikingly lax small joints, malalignments of the lower limbs, and characteristic radiological features. Although named ‘false achondroplasia’, the entity is a distinct condition, in which affected individuals are born with normal length and have a normal facies, but is often only recognised after the age of 2 years, when the disproportion and waddling gait become evident. We report on an affected South African father and daughter, and highlight their clinical and radiographic features.

Keywords

Pseudoachondroplasia; skeletal dysplasia

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Crossref Citations

1. Pseudoachondroplasia in a child: The role of anthropometric measurements and skeletal imaging in differential diagnosis
Radwa Gamal, Solaf M. Elsayed, Tamer Ahmed EL-Sobky, Heba Salah Elabd
The Egyptian Journal of Radiology and Nuclear Medicine  vol: 48  issue: 1  first page: 245  year: 2017  
doi: 10.1016/j.ejrnm.2016.10.007