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A Neonatal Manifestation of Geleophysic Dysplasia Type 1: A Case Report Highlighting Phenotypic Overlap With Al-Gazali Skeletal Dysplasia.

Congenital anomalies - 1 Jan 2026

Shimura Kazuhiro, Tsujioka Yuko, Kijima Toshihide, Ichihashi Yosuke, Kushima Reiko, Nishimura Gen, Hasegawa Tomonobu, Narumi Satoshi

Abstract excerpt

Geleophysic dysplasia type 1 is a rare skeletal dysplasia caused by biallelic pathogenic variants in ADAMTSL2. Affected children typically show a "happy-natured facial appearance," postnatal short stature with acromelic limb shortening, progressive joint contracture, and skin tightness. Most patients are diagnosed in childhood, and very little is known about the neonatal manifestation. We report a Japanese girl...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 42017525
DOI: 10.1002/cga.70058
PMCID: PMC13422676

Genes

ADAMTSL2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 20 Oct 2026.

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