A Case of Rhizomelic Chondrodysplasia Punctata in Newborn

Author:

Karabayır Nalan1,Keskindemirci Gonca1,Adal Erdal1,Korkmaz Orhan2

Affiliation:

1. Pediatrics Department, Bakırköy Maternity and Children Education and Research Hospital, Kartaltepe mah Aksoy sok. Petrol Sitesi 6/11 Bakırköy, Istanbul, Turkey

2. Radiology Department, Bakırköy Maternity and Children Education and Research Hospital, Turkey

Abstract

Rhizomelic chondrodysplasia punctate (RCDP) is a rare autosomal recessive peroxisomal disease. The main features of the disease are shortening of the proximal long bones, punctate calcifications located in the epiphyses of long bones and in soft tissues around joints and vertebral column, vertebral clefting, dysmorphic face, and severe growth retardation, whereas cervical spinal stenosis may also rarely be present. Imaging of the brain and spinal cord in patients with this disorder may aid prognosis and guide management decisions. We report the newborn diagnosed as CDP with cervical stenosis. Our aim is to discuss current knowledge on etiopathogenesis as well as radiological and clinical symptoms of diseases associated with CDP.

Publisher

Hindawi Limited

Subject

General Medicine

Cited by 5 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

1. Antenatal ultrasonographic diagnosis of rhizomelic chondrodysplasia punctata;Journal of Ultrasound;2022-10-31

2. Prenatal, Newborn Screen, and Metabolic Disorders;Self-Assessment Questions for Clinical Molecular Genetics;2019

3. Neonatal Rhizomelic Chondrodysplasia Punctata Type 1;Journal of Perinatal & Neonatal Nursing;2017-10

4. Peroxisome biogenesis disorders;Translational Science of Rare Diseases;2016-11-07

5. Peroxisomes in brain development and function;Biochimica et Biophysica Acta (BBA) - Molecular Cell Research;2016-05

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