Robinow Syndrome and Brachydactyly: An Interplay of High-Throughput Sequencing and Deep Phenotyping in a Kindred.
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ABSTRACT:
SUBMITTER: Mishra R
PROVIDER: S-EPMC7109436 | biostudies-literature | 2020 Feb
REPOSITORIES: biostudies-literature
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Robinow Syndrome and Brachydactyly: An Interplay of High-Throughput Sequencing and Deep Phenotyping in a Kindred.
Mishra Ranjana R Jain Vibha V Gupta Deepti D Saxena Renu R Kulshreshtha Samarth S Ramprasad Vedam L VL Verma Ishwar C IC Dua Puri Ratna R
Molecular syndromology 20200117 1
We report a family with a spectrum of short stature, craniofacial dysmorphism, and digital anomalies in a father and 2 daughters, with the youngest (proband) displaying a severe phenotype. Clinically, autosomal dominant Robinow syndrome (ADRS) was diagnosed. Whole-exome sequencing identified a heterozygous pathogenic <i>BMP2</i> variant in the father and his daughters. The phenotype of short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies related to <i>BMP2< ...[more]
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