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

Asha Prakash Mohapatra *

Department of Paediatrics, PGIMER and Capital Hospital, Bhubaneswar, Odisha, India.

Ankita Satpathy

Department of Paediatrics, PGIMER and Capital Hospital, Bhubaneswar, Odisha, India.

Athulya P. U.

Department of Paediatrics, PGIMER and Capital Hospital, Bhubaneswar, Odisha, India.

Leena Das

Department of Paediatrics, PGIMER and Capital Hospital, Bhubaneswar, Odisha, India.

Ipsita Mohapatra

Department of Obstetrics and Gynaecology, PGIMER and Capital Hospital, Bhubaneswar, Odisha, India.

*Author to whom correspondence should be addressed.


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.

Keywords: Nager syndrome, craniofacial skeleton, Stickler syndrome type II, sporadic malformation


How to Cite

Mohapatra , Asha Prakash, Ankita Satpathy, Athulya P. U., Leena Das, and Ipsita Mohapatra. 2023. “Nager Syndrome Co-Harboring Mutation Consistent With Stickler Syndrome: A Rare Case Report”. Asian Journal of Pediatric Research 13 (4):75-80. https://doi.org/10.9734/ajpr/2023/v13i4293.

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