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Article

Acromelic dysplasias: similarities and differences in clinical and molecular findings in 12 Turkish patients.

European journal of pediatrics - 19 May 2026

Güneş N, Türk S, Onur H, Gür K, Yüksel Elgin C, Çifçi Sunamak E, Uludağ Alkaya D, Eroğlu A Güler, Tüysüz B

Abstract excerpt

The purpose of this study is to compare the natural history of clinical and radiologic features in patients with acromelic dysplasias. Twelve patients from nine families with genetically confirmed dysplasia types with acromelia were included in the study, and eight of them were followed-up for a median of 8.1 years. Monoallelic disease-causing variants were identified in FBN1 (acromicric dysplasia, n = 3) and...

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Identifiers

PMID: 42151490
DOI: 10.1007/s00431-026-07075-2
PMCID: PMC13183703

Genes

ADAMTSL2
ADAMTS10
ADAMTS17
FBN1
GNAS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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