Article
Clinical Presentation of the Longest Reported Living Individual With Bent Bone Dysplasia-FGFR2-Related.
American journal of medical genetics. Part A - 1 Mar 2026
Bates Cheyenne, Gill Pardeep, Choi Matthew, Mahon Frances, Yarascavitch Blake, Lim Audrey, Ejaz Resham
Abstract excerpt
The FGFR2 gene, encoding the FGFR2 protein, plays a crucial role in embryonic cell development, particularly in bone tissue. Bent Bone Dysplasia (BBD), FGFR2-related (MIM# 614592), is a rare severe skeletal dysplasia characterized by craniofacial differences, reduced bone mineral density, and bowed long bones. Only 14 individuals have been reported, of which the majority died prenatally or neonatally. We report...
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