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:
- congenital bowing of the long bones
- cartilage-hair hypoplasia (CHH; metaphyseal dysplasia, McKusick type)
- Schwartz-Jampel syndrome
- Antley-Bixler syndrome (short-limbed campomelic syndrome, craniostenotic form)
- Cummings syndrome
Many in the class are thought to be autosomal recessive. May be X-linked.
There are multiple skeletal anomalies associated with this class of dysplasias, and common manifestations are
- severe rhizomelic limb shortening
- bowed extremities ("campomelia")
- skin dimples over bowed extremities
Other described anomalies include: micrognathia with midface hypoplasia, narrow chest, facial hemangiomas
- short, bowed femurs
- short long bones
- small chest with short ribs
- short, bowed femurs with metaphyseal flare and irregularity
- eleven ribs, moderately short
Campomelic dysplasia is the main differential consideration, and cases of both dysplasias have sometimes been misattributed to each other 2.
Stuve-Weidemann dysplasia is currently thought to be separate from both camptomelic dysplasia and the kyphomelic dysplasias.
- 1. Warman ML, Cormier-Daire V, Hall C et-al. Nosology and classification of genetic skeletal disorders: 2010 revision. Am. J. Med. Genet. A. 2011;155A (5): 943-68. doi:10.1002/ajmg.a.33909 - Free text at pubmed - Pubmed citation
- 2.Taybi H, Lachman R. Radiology of syndromes, metabolic disorders, and skeletal dysplasias. Mosby. ISBN:0815187092. Read it at Google Books - Find it at Amazon