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Case report: Short rib polydactyly syndrome - type 2 (Majewski syndrome)
Pramod Setty Jutur1, Chandan Pramod Kumar, Shetteppa Goroshi
1Department of Radio Diagnosis, J. J. M. Medical College, Davangere - 577 004, Karnataka, India.
The Indian Journal of Radiology & Imaging
|July 8, 2010
Summary
Short rib polydactyly syndrome type 2 (Majewski syndrome) is a lethal skeletal dysplasia. This case highlights its antenatal diagnosis via ultrasound, confirmed postnatally, aiding in understanding this rare genetic disorder.
Area of Science:
- Medical Genetics
- Skeletal Dysplasias
- Prenatal Diagnosis
Background:
- Short rib polydactyly syndrome type 2 (SRPS type 2), also known as Majewski syndrome, is a rare, lethal autosomal recessive skeletal dysplasia.
- It is characterized by distinctive features including horizontally oriented short ribs, polysyndactyly (extra digits), and micromelia (disproportionately short limbs).
Observation:
- This report details a specific case of SRPS type 2.
- Diagnosis was initially made using antenatal ultrasound (USG) at 28 weeks of gestation.
- Confirmation was achieved through subsequent postnatal radiography, fetal autopsy, and histopathological examination.
Findings:
- The case presentation aligns with the known phenotypic characteristics of SRPS type 2.
- Antenatal ultrasound proved effective for early identification of this severe skeletal dysplasia.
- Postnatal investigations corroborated the ultrasound findings, providing a comprehensive diagnostic picture.
Implications:
- Early and accurate diagnosis of SRPS type 2 is crucial for genetic counseling and family planning.
- This case underscores the utility of advanced imaging techniques in diagnosing lethal fetal conditions.
- Further research into the genetic basis and potential management strategies for SRPS type 2 may be warranted.
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