short rib polydactyly syndrome

Extending the
spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVCgene. Radiographs of patient IV-9. A) Coned epiphysis of the left second middle phalanx and prominent styloid process of the ulna B) Irregular notched tip of the distal phalanx of the hallux C) Bowing of the right humerus D) Fusion of the right proximal tibia and fibula.
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Extending the
spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVCgene. Radiographs of patient V-8. A) Residual appearance of postaxial polydactyly of the hand B) Abnormal appearance of some of the middle and distal phalanges of toes C) Mild lateral bowing of the humerus.
bmcmedgenet.biomedcentral.com • CC-by-2.0
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Short rib polydactyly syndrome(s) (SRPS) comprise a rare group of severe osteochondrodysplasias. There are four major recognized types present:

  • type I: Saldino-Noonan type
  • type II:: Majewski type
  • type III: Verma-Naumoff type
  • type IV: Beemer-Langer type

There may also be other very rare types described, such as :

  • Hall-Piepkorn type
  • Le Marec type
  • Martinez-Frias type
  • Tsai-Huang type
  • Yang type

Clinical presentation

While there is some variation in the clinical spectrum, they can be collectively characterized by :

Pathology

Genetics

Collectively, most cases carry an autosomal recessive inheritance.

Associations

Multiple anomalies of major organs are common . These include:

Treatment and prognosis

SRPSs are lethal anomalies and management is often supportive.

See also

Siehe auch:
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