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Short rib syndrome--Beemer type in sibs
1Clinical Genetics Center Utrecht, The Netherlands.
American Journal of Medical Genetics
|August 1, 1991
Summary
Short rib polydactyly syndrome Beemer type is a rare lethal osteochondrodysplasia. Differentiation from Majewski type relies on tibial imaging, with molecular studies pending to confirm distinct entities.
Area of Science:
- Medical Genetics
- Skeletal Dysplasias
- Pediatric Radiology
Background:
- Short rib polydactyly syndrome (SRPS) encompasses a group of lethal skeletal dysplasias.
- Beemer type SRPS is a rare, severe condition with characteristic clinical and radiological features.
Observation:
- Two female siblings presented with SRPS Beemer type.
- Clinical features included short limbs, median cleft lip/palate, narrow thorax, and abdominal protuberance.
- Radiological findings revealed short ribs, bowed long bones, and mild platyspondyly, with one sibling exhibiting preaxial foot polydactyly.
Findings:
- The described cases align with the diagnostic criteria for SRPS Beemer type.
- Key radiological differences, particularly tibial morphology, are crucial for distinguishing Beemer type from Majewski type SRPS.
- The presence of polydactyly in one sibling adds to the phenotypic spectrum.
Implications:
- Accurate radiological assessment is vital for differentiating SRPS subtypes.
- Further molecular investigations are needed to definitively establish the genetic basis and distinctness of Beemer and Majewski types.
- Understanding these rare conditions improves diagnostic accuracy and potential genetic counseling for affected families.