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Case Reports: Rare disease
Whole exome sequencing, clinical exome or targeted gene panels: what to choose for suspected lethal skeletal dysplasia (short rib thoracic dysplasia type IV)
  1. Shreya Das1,
  2. Charu Sharma1,
  3. Meenakshi Gothwal1 and
  4. Nayan Tada2
  1. 1Obstetrics and Gynaecology, All India Institute of Medical Sciences, Jodhpur, Rajasthan, India
  2. 2Paediatrics, All India Institute of Medical Sciences, Jodhpur, Rajasthan, India
  1. Correspondence to Dr Charu Sharma; sharma.charu651{at}gmail.com

Abstract

Lethal skeletal dysplasias (SDs) are a heterogeneous group of rare but important genetic disorders characterised by abnormal growth and development of bone and cartilage. The phenotypic variation of SD highlights the complex aetiology for this group of disorders. Short rib polydactyly syndrome (SRPS) types I–IV are a group of rare congenital autosomal recessive types of SD.

We report a case of a non-consanguineous couple whose two successive pregnancies were diagnosed with multiple congenital anomalies in fetuses suggestive of lethal SD (likely SRPS type IV) at 24 and 19 weeks period of gestation, respectively. Pregnancy was terminated, and the whole exome sequencing of the abortus for genetic analysis in the second pregnancy confirmed an autosomal recessive type of short rib thoracic dysplasia-4 (SRTD-4) also called SRPS in homozygous condition. Our case is unique as it was also associated with cystic hygroma which is a rare association with SRPS/SRTD-4.

  • Genetics
  • Abortion
  • Pregnancy

http://dx.doi.org/10.1136/bcr-2022-251118

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    Footnotes

    • Contributors CS and SD designed the concept. SD and CS wrote the manuscript. MG and NT helped in the literature search, managed the patients and helped in editing the manuscript. All the authors read and approved the final manuscript.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.