Chondrodysplasia Punctata
- Chondrodystrophia Calcificans Congenita
- Conradi-Hunermann Syndrome
- Dysplasia Epiphysialis Punctata
- Epiphyses, Stippled
- Stippled Epiphyses
- Hunermann-Conradi Syndrome
Definition: A heterogeneous group of bone dysplasias, the common character of which is stippling of the epiphyses in infancy. The group includes a severe autosomal recessive form (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC), an autosomal dominant form (Conradi-Hunermann syndrome), and a milder X-linked form. Metabolic defects associated with impaired peroxisomes are present only in the rhizomelic form.
http://www.hon.ch/HONselect/RareDiseases/EN/C05.116.099.708.195.html http://www.emedicine.com/ped/topic625.htm
44http://www.hon.ch/HONselect/RareDiseases/EN/C05.116.099.708.195.html http://www.emedicine.com/ped/topic625.htm
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