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Article

FAM20B Related Skeletal Dysplasia: Expanding the Prenatal Phenotype.

Clinical genetics - 1 May 2026

Arduç Arda, Zuurbier Linda C, van Maarle Merel C, Lauffer Peter, Verbeke Jonathan I M L, Bax Caroline J, van Tuyl Minke, Hochstenbach Ron, Pajkrt Eva

Abstract excerpt

FAM20B encodes glycosaminoglycan xylosylkinase, a key enzyme in proteoglycan biosynthesis. Biallelic pathogenic variants have only recently been linked to skeletal dysplasia. We report two pregnancies from one couple, resulting in three fetuses (twin sibs and younger sib) with severe skeletal anomalies. Prenatal findings included enlarged nuchal translucency, short bowed and dislocated limbs, intrauterine growth...

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Topics

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Share to Bone Diseases, Developmental
Share to Fetus

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant, Newborn

Share to Mutation, Missense

Share to Pedigree

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Share to Prenatal Diagnosis

Source

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Identifiers

PMID: 41277483
DOI: 10.1111/cge.70115
PMCID: PMC13066759

Genes

FAM20B

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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