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Chondrodysplasia Punctata (Stippled Epiphyses)

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.
Also Known As:
Stippled Epiphyses; Conradi Hunermann Happle Syndrome; Happle Syndrome; Hunermann-Conradi Syndrome; Conradi Hunermann Syndrome; Hunermann Conradi Syndrome; Syndrome, Conradi-Hunermann; Syndrome, Happle; Syndrome, Hunermann-Conradi; Chondrodystrophia Calcificans Congenita; Conradi-Hunermann Syndrome; Dysplasia Epiphysialis Punctata; Epiphyses, Stippled
Networked: 161 relevant articles (0 outcomes, 3 trials/studies)

Disease Context: Research Results

Related Diseases

1. Smith-Lemli-Opitz Syndrome
2. Refsum Disease (Refsum's Disease)
3. Thanatophoric Dysplasia (Dwarfism, Thanatophoric)
4. Ellis-Van Creveld Syndrome (Chondroectodermal Dysplasia)
5. Ehlers-Danlos Syndrome (Syndrome, Ehlers-Danlos)

Experts

1. Braverman, Nancy: 4 articles (08/2013 - 12/2004)
2. Edery, Patrick: 3 articles (11/2015 - 03/2005)
3. Rossi, Massimiliano: 3 articles (11/2015 - 01/2005)
4. Parenti, Giancarlo: 3 articles (07/2015 - 03/2003)
5. Andria, Generoso: 3 articles (07/2015 - 03/2003)
6. Brunetti-Pierri, Nicola: 3 articles (03/2013 - 03/2003)
7. Herman, Gail E: 3 articles (01/2011 - 11/2002)
8. Porter, Forbes D: 3 articles (01/2011 - 12/2003)
9. Kelley, R I: 3 articles (08/2001 - 01/2000)
10. Hall, Christine M: 2 articles (07/2015 - 10/2008)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Chondrodysplasia Punctata:
1. CholesterolIBA
2. Phytanic AcidIBA
3. cholesta-5,8-dien-3 beta-olIBA
4. Proteoglycans (Proteoglycan)IBA
5. Dyssegmental dysplasiaIBA
6. 7-dehydrocholesterolIBA
7. Detergents (Detergent)IBA
8. Desbuquois syndromeIBA
9. Dyggve-Melchior-Clausen syndromeIBA
10. Cytidine Diphosphate (CDP)IBA

Therapies and Procedures

1. Tissue Expansion
2. X-Ray Film