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Short rib-polydactyly syndrome.

M M Naki¹, D Gür, E Zemheri

¹Department of Obstetrics and Gynecology, SSK Göztepe Training Hospital, Istanbul, Turkey. mmuratnaki@yahoo.com

Archives of Gynecology and Obstetrics

|December 18, 2004

Summary

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Short rib-polydactyly syndrome (SRPD) is a lethal skeletal dysplasia. This case report details a severe subtype II (Majewski) presentation diagnosed prenatally, highlighting the importance of postmortem examinations for confirmation.

Area of Science:

Medical Genetics
Skeletal Dysplasias
Prenatal Diagnosis

Background:

Short rib-polydactyly syndrome (SRPD) is a lethal autosomal recessive skeletal dysplasia.
Characterized by short limbs, ribs, thoracic hypoplasia, polydactyly, and visceral anomalies.

Observation:

A case of SRPD subtype II (Majewski) detected at 36 weeks gestation.
Observed features included hydropic changes, narrow thorax, micromelia, polydactyly, and craniofacial abnormalities.
The infant experienced a fatal outcome shortly after induced delivery.

Findings:

Prenatal detection of SRPD subtype II (Majewski) is possible.
Postmortem radiographic and pathological examinations are crucial for definitive diagnosis.

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Implications:

This case underscores the challenges in managing lethal skeletal dysplasias.
Emphasizes the role of genetic counseling and prenatal diagnostics in SRPD.
Informs clinical practice regarding the management of severe fetal skeletal anomalies.