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First case report of Nager syndrome patient from Georgia.

ABSTRACT: Nager syndrome (MIM #154400) is a rare acrofacial dysostosis syndrome predominantly characterized by malformations in craniofacial and preaxial limb bones. Most cases are sporadic and present with significant clinical heterogeneity. Although autosomal recessive and autosomal dominant modes of inheritance have been reported, most cases of Nager syndrome are spontaneous. Heterozygous variants in SF3B4 on chromosome 1q21 are found in approximately 60% of patients. Here, we report a first patient from Georgia diagnosed with Nager syndrome with detailed description of its clinical manifestations and diagnosis.

SUBMITTER: Tkemaladze T

PROVIDER: S-EPMC9751155 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature

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First case report of Nager syndrome patient from Georgia.

Tkemaladze Tinatin T Bregvadze Kakha K Kvaratskhelia Eka E Kapoor Manish Aaryan MA Orjonikidze Nino N Abzianidze Elene E

SAGE open medical case reports 20221212

Nager syndrome (MIM #154400) is a rare acrofacial dysostosis syndrome predominantly characterized by malformations in craniofacial and preaxial limb bones. Most cases are sporadic and present with significant clinical heterogeneity. Although autosomal recessive and autosomal dominant modes of inheritance have been reported, most cases of Nager syndrome are spontaneous. Heterozygous variants in <i>SF3B4</i> on chromosome 1q21 are found in approximately 60% of patients. Here, we report a first pat ...[more]

PMID: 36530372

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