Kyphomelic dysplasias

Last revised by Dr Daniel J Bell on 23 Aug 2019

Kyphomelic dysplasias (also known as "pseudocampomelia") is thought to be a heterogeneous class of "bent bone" skeletal dysplasias. Entities included in a differential for the class are:

There are multiple skeletal anomalies associated with this class of dysplasias, and common manifestations are:

Other described anomalies include micrognathia with midface hypoplasia, narrow chest, and facial hemangiomas.

Many in the class are thought to be autosomal recessive, but some may be X-linked.

  • short, bowed femurs
  • short long bones
  • small chest with short ribs
  • short, bowed femurs with metaphyseal flare and irregularity
  • eleven ribs, moderately short

Flared and irregular metaphyses of multiple long bones are also associated with these dysplasias, as well as mild platyspondyly and camptodactyly.

Campomelic dysplasia is the main differential consideration, and cases of both dysplasias have sometimes been misattributed to each other 2.

Stuve-Wiedemann dysplasia is currently thought to be separate from both campomelic dysplasia and the kyphomelic dysplasias.

Osteogenesis imperfecta and congenital hypophosphatasia may also be considered in the differential.

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