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Abstract

January - March 2024 | Vol. 17 | Issue 1 | 05-08
Unusual Manifestation of a Rare Disorder: Type XIV Osteogenesis Imperfecta Presenting as Fetal Hydrops
Dr Prajnya Ranganath
1 Department of Medical Genetics, Nizam’s Institute of Medical Sciences, Hyderabad, India 2 Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India
Address for Correspondence Email: prajnyaranganath@gmail.com
 
Abstract
Osteogenesis imperfecta (OI) is a group of inherited disorders characterised by decreased bone density and increased susceptibility to fractures. In addition to the classic COL1A1/ COL1A2- associated autosomal dominant (AD) OI, close to 20 more types have been identified in recent years. Type XIV OI is a very rare autosomal recessive form of OI caused by biallelic variants in the TMEM38B gene. We report here a consanguineous family with recurrent fetal hydrops, where evaluation of the second affected fetus revealed the diagnosis of TMEM38B gene-related Type XIV OI.
 
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