Natural history of rhizomelic chondrodysplasia punctata
Abstract
Rhizomelic chondrodysplasia punctata (RCP) is a rare autosomal recessive disorder with many associated medical complications. Prior to this study, natural history information about RCP was limited and based on experiences with small populations of affected individuals. We delineate the natural history of RCP through systematic analysis of 35 previously unreported individuals (as well as review of 62 literature cases with respect to survival and cause of death). Survival, growth, and developmental expectations and medical needs are summarized based upon experience with this population. Survival is greater among this population than previously reported, with 90% surviving up to 1 year and 50% surviving up to 6 years. Cause of death is most often respiratory problem. All infants with RCP have joint contractures, bilateral cataracts, and severe growth and psychomotor delays. Recommendations for health supervision of children with RCP and for parental counseling are presented.
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The most severe form of RCDP leads to lethality within the first years of life, often due to respiratory failure.
“The most severe form of the disease leads to lethality within the first years of life, often due to respiratory failure.”
From Peroxisomes in brain development and function (2016) · cites this paper as [192]
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- Authors
- White, A. L., Modaff, P., Holland‐Morris, F., & Pauli, R. M.
- Affiliations
- University of Wisconsin–Madison (US)
- Corresponding author
- Pauli, Richard M.
- Venue
- American Journal of Medical Genetics Part A
- Publisher
- Wiley
- Published
- 2003-01-27
- Volume
- 118A
- Issue
- 4
- Pages
- 332-342
- ISSN
- 1552-4825 (ISSN-L)
- 1552-4833
- OpenAlex
- W2057289315
- Cited by
- 124
- References
- 62
- Citations by year
- 2026: 1 · 2025: 4 · 2024: 4 · 2023: 5 · 2022: 6 · 2021: 6 · 2020: 2 · 2019: 5 · 2018: 4 · 2017: 10 · 2016: 6 · 2015: 10 · 2014: 8 · 2013: 10 · 2012: 10
- FWCI
- 1.76
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- American Journal of Medical Genetics Part A (publishedVersion)
- PubMed (publishedVersion)
- Funders
- University of Wisconsin-Madison
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Developmental Biology › Congenital limb and hand anomalies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- rhizomelic chondrodysplasia punctata, natural history (disease), survival, causes of death, respiratory problems, joint contractures, cataract, growth retardation, psychomotor delay, health supervision, parental counseling, autosomal recessive disorder
- MeSH terms
- Adolescent, Child, Child, Preschool, Female, Humans, Infant, Infant, Newborn, Male, Surveys and Questionnaires, Disease Progression, Chondrodysplasia Punctata, Rhizomelic
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