Chondrodysplasia Punctata (Subscribe)  

Wikipedia entry (stub)

Case report of intubation difficulties in a patient with scoliosis

4 synonyms or equivalents were found. Chondrodysplasia punctata, autosomal dominant aka/or Chondrodysplasia punctata, Conradi-Hunermann type aka/or Chondrodystrophia calcificans congenita aka/or Conradi-Huenermann syndrome

Chondrodysplasia includes a variety of multiple epiphyseal dysplasia in which the unossified cartilaginous epiphyseal centres become calcified during the first year after birth. Five types are identified: rhizomelic; X-linked dominant or Conradi Hunermann syndrome; X-linked recessive or Curry type; Sheffield type; and tibia-metacarpal type. It occurs in X-linked recessive or...

Chondrodysplasia punctata (CPD) is a clinically and genetically heterogeneous disorder characterized by punctiform calcification of the bones. X-linked dominant CPD, also known as Conradi-Hunermann syndrome, is the most well-characterized form. See 118650 for a possible autosomal dominant form of CPD. There are 2 brachytelephalangic forms of CPD: an X-linked recessive...

Discussion: - comprises a group of disorders characterized by multiple punctate calcifications in infancy; - skeletal manifestations include: skin, facial, ocular, and cardiac abnormalities; - characteristic punctate calcifications are seen on x-ray at birth and usually disappear by one year of...

Search String "Chondrodysplasia Punctata"[MAJR:NoExp] URL http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=pubmed&term=%22Chondrodysplasia+Punctata%22%5BMAJR%3ANoExp%5D

Review of condition including Disease synonyms, prevalence, epidemiology, clinical picture, differential diagnosis, Lab evaluation, prognosis and treatment