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Short rib polydactyly syndrome-Type I.

S Sridhar1, Ravi Kishore, Niranjan Thomas

  • 1Department of Neonatology, Christian Medical College Hospital, Vellore, Tamil Nadu, India. neonatal@cmcvellore.ac.in

Indian Journal of Pediatrics
|April 27, 2004
PubMed
Summary

Short rib polydactyly syndrome (SRPS) is a lethal skeletal dysplasia. This case highlights SRPS Type I in a stillborn, emphasizing antenatal ultrasonography for early diagnosis.

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Area of Science:

  • Medical Genetics
  • Skeletal Dysplasias
  • Perinatology

Background:

  • Short rib polydactyly syndrome (SRPS) encompasses lethal skeletal dysplasias characterized by short limbs/ribs, narrow thorax, and polydactyly.
  • These conditions can present with or without visceral anomalies, posing significant diagnostic challenges.

Observation:

  • A case report details a fresh stillborn infant exhibiting classic SRPS features.
  • The infant presented with severe micromelia, thoracic hypoplasia, polydactyly, and notably, dysplastic kidneys.

Findings:

  • Clinical and radiological evaluations confirmed the presentation consistent with SRPS - Type I (Saldino-Noonan Type).
  • The specific combination of skeletal abnormalities and renal dysplasia was key to subtyping the syndrome.

Implications:

  • This case underscores the importance of recognizing SRPS, particularly Type I, in stillborn neonates.
  • Antenatal ultrasonography is a crucial tool for the early diagnosis of SRPS, allowing for timely genetic counseling and management planning.

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