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Research Article Open access CC BY 4.0

Nager Syndrome Co-Harboring Mutation Consistent with Stickler Syndrome: A Rare Case Report

Asha Prakash Mohapatra, Ankita Satpathy, Athulya P. U., Leena Das, Ipsita Mohapatra

Asian Journal of Pediatric Research · pp. 75–80 · Published 18 Nov 2023

10.9734/ajpr/2023/v13i4293

Abstract

Nager syndrome, or preaxial acrofacial dysostosis, is a rare malformation characterized by abnormalities of the craniofacial skeleton and limbs. Although most cases are sporadic and some cases have been demonstrated to have an autosomal dominant or recessive mode of inheritance, SF3B4 haploinsufficiency is the most common genetic abnormality identified in this, of which only around 100 cases have been reported so far in the literature. Classically characterized by ante-mongoloid slant, retrognathia, midface retrusion and proximal limb abnormalities like thumb aplasia or hypoplasia, arachnodactyly and radioulnar synostosis, the significant morbidity and mortality in this challenging condition is primarily due to airway abnormalities causing respiratory obstruction. We report a case of genetically confirmed Nager syndrome simultaneously harbouring a mutation consistent with Stickler syndrome type II.

Nager syndrome craniofacial skeleton Stickler syndrome type II sporadic malformation

References (15)

  1. 1 Haploinsufficiency of SF3B4, a Component of the Pre-mRNA Spliceosomal Complex, Causes Nager Syndrome [DOI]
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Cited by 5

Etiology of Craniofacial and Cardiac Malformations in a Mouse Model of SF3B4-Related Syndromes

Shruti Kumar, Eric Bareke, Jimmy Lee · 2024

Unusual case of hemifacial microsomia with upper limb defects suggestive of Nager syndrome: clinical and radiological insights

Nilofer Halim, Farzhana TH, Muhammed Faiz CP · Journal of Otolaryngology-ENT Research · 2025

Etiology of craniofacial and cardiac malformations in a mouse model of SF3B4 -related syndromes

Shruti Kumar, Eric Bareke, Jimmy Lee · Proceedings of the National Academy of Sciences · 2024

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