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Nakajima E, Yokohama Y, Sugiyama S, Taketazu M, Mitsube K, Yamada T, Hammarsjö A, Grigelioniene G, Nishimura G, Makita Y
Hum Genome Var 11 (1) 44 [2024-12-03; online 2024-12-03]
We report a case of a fetus with short-rib thoracic dysplasia (SRTD) with polydactyly that also presented with atypical severe acro-mesomelic ossification defects. Genetic analysis using massively parallel sequencing of a skeletal dysplasia panel revealed compound heterozygous variants in DYNC2H1. This clinical report highlights the challenges associated with diagnosing the diverse phenotypes in the SRTD group and emphasizes the importance of genetic surveillance with a targeted gene panel for accurate diagnosis.
Clinical Genomics Stockholm [Service]
PubMed 39622812
DOI 10.1038/s41439-024-00302-y
Crossref 10.1038/s41439-024-00302-y
pmc: PMC11612155
pii: 10.1038/s41439-024-00302-y