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Chondrodysplasia punctata 2, X-linked dominant, atypical

MedGen UID:: 864901
•Concept ID:: C4016464
•: Finding

Synonym:	CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT, ATYPICAL

OMIM®:	300205

Recent clinical studies

Etiology

Peroxisome biogenesis disorders: Biological, clinical and pathophysiological perspectives.

Braverman NE, D'Agostino MD, Maclean GE
Dev Disabil Res Rev 2013;17(3):187-96. doi: 10.1002/ddrr.1113. PMID: 23798008

Normal and defective neuronal membranes: structure and function: neuronal lesions in peroxisomal disorders.

Powers JM
J Mol Neurosci 2001 Apr-Jun;16(2-3):285-7; discussion 317-21. doi: 10.1385/JMN:16:2-3:285. PMID: 11478383

Clinical approach to inherited peroxisomal disorders: a series of 27 patients.

Baumgartner MR, Poll-The BT, Verhoeven NM, Jakobs C, Espeel M, Roels F, Rabier D, Levade T, Rolland MO, Martinez M, Wanders RJ, Saudubray JM
Ann Neurol 1998 Nov;44(5):720-30. doi: 10.1002/ana.410440505. PMID: 9818927

Variant rhizomelic chondrodysplasia punctata (RCDP) with normal plasma phytanic acid: clinico-biochemical delineation of a subtype and complementation studies.

Barth PG, Wanders RJ, Schutgens RB, Staalman CR
Am J Med Genet 1996 Mar 15;62(2):164-8. doi: 10.1002/(SICI)1096-8628(19960315)62:2<164::AID-AJMG9>3.0.CO;2-W. PMID: 8882397

Old syndromes and new cytogenetics.

Punnett HH, Zakai EH
Dev Med Child Neurol 1990 Sep;32(9):824-31. doi: 10.1111/j.1469-8749.1990.tb08489.x. PMID: 2227145

See all (5)

Diagnosis

Peroxisome biogenesis disorders: Biological, clinical and pathophysiological perspectives.

Braverman NE, D'Agostino MD, Maclean GE
Dev Disabil Res Rev 2013;17(3):187-96. doi: 10.1002/ddrr.1113. PMID: 23798008

Refsum's disease: a peroxisomal disorder affecting phytanic acid alpha-oxidation.

Wierzbicki AS, Lloyd MD, Schofield CJ, Feher MD, Gibberd FB
J Neurochem 2002 Mar;80(5):727-35. doi: 10.1046/j.0022-3042.2002.00766.x. PMID: 11948235

Clinical approach to inherited peroxisomal disorders.

Poggi-Travert F, Fournier B, Poll-The BT, Saudubray JM
J Inherit Metab Dis 1995;18 Suppl 1:1-18. doi: 10.1007/BF00711425. PMID: 9053544

Perthes' disease and multiple epiphyseal dysplasia.

Griffiths HE, Witherow PJ
Postgrad Med J 1977 Aug;53(622):464-72. doi: 10.1136/pgmj.53.622.464. PMID: 917961 Free PMC Article

Chondroangiopathia calcarea seu punctata (chondrodystrophia calcificans congenita): an atypical, stationary form of the disease.

LICHT J, JESIOTR M
Am J Roentgenol Radium Ther Nucl Med 1957 Sep;78(3):492-8. PMID: 13458568

See all (9)

Prognosis

The neurology of rhizomelic chondrodysplasia punctata.

Bams-Mengerink AM, Koelman JH, Waterham H, Barth PG, Poll-The BT
Orphanet J Rare Dis 2013 Oct 30;8:174. doi: 10.1186/1750-1172-8-174. PMID: 24172221 Free PMC Article

See all (1)

Clinical prediction guides

The neurology of rhizomelic chondrodysplasia punctata.

Bams-Mengerink AM, Koelman JH, Waterham H, Barth PG, Poll-The BT
Orphanet J Rare Dis 2013 Oct 30;8:174. doi: 10.1186/1750-1172-8-174. PMID: 24172221 Free PMC Article

Normal and defective neuronal membranes: structure and function: neuronal lesions in peroxisomal disorders.

Powers JM
J Mol Neurosci 2001 Apr-Jun;16(2-3):285-7; discussion 317-21. doi: 10.1385/JMN:16:2-3:285. PMID: 11478383

Submicroscopic Xpter deletion in a boy with growth and mental retardation caused by a familial t(X;14).

de Vries BB, Eussen BH, van Diggelen OP, van Der Heide A, Deelen WH, Govaerts LC, Lindhout D, Wouters CH, Van Hemel JO
Am J Med Genet 1999 Nov 19;87(2):189-94. doi: 10.1002/(sici)1096-8628(19991119)87:2<189::aid-ajmg12>3.3.co;2-h. PMID: 10533035

Perthes' disease and multiple epiphyseal dysplasia.

Griffiths HE, Witherow PJ
Postgrad Med J 1977 Aug;53(622):464-72. doi: 10.1136/pgmj.53.622.464. PMID: 917961 Free PMC Article

See all (4)

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Chondrodysplasia punctata 2, X-linked dominant, atypical

Recent clinical studies

Etiology

Diagnosis

Prognosis

Clinical prediction guides

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