Ocular Involvement in a Pediatric Patient with Geleophysic Dysplasia

Geleophysic dysplasia (GD) is a rare genetic skeletal disorder belonging to the acromelic group, characterized by short stature, distinctive facial features, thickened skin, and progressive cardiac involvement. We report a case of a 3-year-old boy with GD caused by a heterozygous c.5198G>A variant i...

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Principais autores:	Bogumiła Wójcik-Niklewska, Zofia Oliwa, Paulina Sawuła, Adrian Smędowski
Format:	Artigo
Jezik:	Inglês
Izdano:	MDPI AG 2026-01-01
Serija:	Diagnostics
Teme:	geleophysic dysplasia FBN1 mutation optic disc abnormalities pediatric ophthalmology
Online dostop:	https://www.mdpi.com/2075-4418/16/2/193
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