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Article

Perinatal outcomes in 35 children with cartilage hair hypoplasia.

Orphanet journal of rare diseases - 30 Apr 2026

Kasanen Ellamaija, Toiviainen-Salo Sanna, Vakkilainen Svetlana, Kainulainen Leena, Tanner Laura, Makitie Outi

Abstract excerpt

BACKGROUND: Cartilage-hair hypoplasia (CHH), an autosomal recessive skeletal dysplasia due to RMRP mutations, is characterized by short stature, immunodeficiency, anemia, and increased malignancies. Growth failure has its onset prenatally. Birth and neonatal care in pregnancies with fetal skeletal dysplasia have been studied in some other skeletal dysplasias but there have been no previous studies on these...

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Identifiers

PMID: 42063088
DOI: 10.1186/s13023-026-04364-9
PMCID: PMC13277163

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 23 Oct 2026.

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Perinatal outcomes in 35 children with cartilage hair hypoplasia.PMID 42063088Read ↗

Perinatal Outcomes in 35 Children With Cartilage Hair HypoplasiaSemantic proximity Read ↗

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