Case Report: Short Limb Dwarfism Rhizomelic Chondrodysplasia Punctata
Case Report: Short Limb Dwarfism Rhizomelic Chondrodysplasia Punctata
Sushma1, Nandipatti2, Mary Chandrika3, Aljin V*4
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
Braverman NE, Moser AB, Steinberg SJ. 2001. Rhizomelic Chondrodysplasia Punctata Type 1. In: Pagon RA, Bird TD, Dolan CR, Stephens K, editors. GeneReviews [Internet] Seattle: University of Washington; 2001. Nov, p. 16.
Costa T, Tiller G, Chitayat D, Silverman E. 1993. Maternal Systemic Lupus Erythematosus and Chondrodysplasia Punctata in Two Infants: Coincidence or Association? Abstract Book; First Meeting of the Bone Dysplasia Society; June 17-19, 1993.
Hoefler G, Hoefler S, Watkins PA, Chen WW, Moser A, Baldwin V, et al. 1988. Biochemical abnormalities in rhizomelic chondrodysplasia punctata. J Pediatr 1988;112:726-33.
https://doi.org/10.1016/S0022-3476(88)80689-9
Irving MD, Chitty LS, Mansour S, Hall CM. 2008. Chondrodysplasia punctata: A clinical diagnostic and radiological review. Clin Dysmorphol 2008;17:229-41.
https://doi.org/10.1097/MCD.0b013e3282fdcc70
Kliegman R, Stanton B, St Geme J, Schor N, Behrman R, Kleigman R, et al., editors. 2012. Disorders of Very Long Chain Fatty Acids. Nelson Textbook of Pediatrics. 19th ed. Philadelphia: Elsevier Publishers and Distributors; 2012. p. 462-7.
Phadke SR, Gupta N, Girisha KM, Kabra M, Maeda M, Vidal E, et al. 2010. Rhizomelic chondrodysplasia punctata type 1: Report of mutations in 3 children from India. J Appl Genet 2010;51:107-10.
https://doi.org/10.1007/BF03195717
Steinberg SJ, Dodt G, Raymond GV, Braverman NE, Moser AB, Moser HW. 2006. Peroxisome biogenesis disorders. Biochim Biophys Acta 2006;1763:1733-48.
https://doi.org/10.1016/j.bbamcr.2006.09.010
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