EMAN RESEARCH PUBLISHING | Journal | <p>Case Report: Short Limb Dwarfism Rhizomelic Chondrodysplasia Punctata</p>
Inflammation Cancer Angiogenesis Biology and Therapeutics | Impact 0.4 (CiteScore) | Online ISSN  2207-872X
CASE STUDY   (Open Access)

Case Report: Short Limb Dwarfism Rhizomelic Chondrodysplasia Punctata

Sushma1, Nandipatti2, Mary Chandrika3, Aljin V*4

+ Author Affiliations

Journal of Angiotherapy 6(1) https://doi.org/10.25163/angiotherapy.6162182290707122

Submitted: 29 November 2021  Revised: 13 December 2021  Published: 07 January 2022 

The study is the Rhizomelic chondrodysplasia punctata  (RCDP), a rare peroxisomal disorders.

Abstract


Rhizomelic chondrodysplasia punctata is a rare form of the peroxisomal disorder. It is an autosomal recessive disorder with a distinct clinical phenotype of dwarfism due to symmetrical shortening of the proximal long bones (rhizomelia), cataracts and specific radiological abnormality like punctate epiphyseal calcification (Braverman et al., 2001). A Hindu male baby, born at term (39 weeks+6days) by vaginal delivery, had a weak cry at birth referred to the Neonatal Intensive Care Unit for fast breathing. Baby had proximal shortening of upper limbs and lower limbs. Other dysmorphic features included depressed nasal bridge, broad nose, coarse facial features, long philtrum, and macrostomia. Baby had contractures at thigh and elbow. On ophthalmological examination, there was bilateral megalocornea and near mature cataract.

Keywords: Short Limb Dwarfismn Rhizomelic Chondrodysplasia Punctata and PEX7 gene mutation

References


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