Fetus with an unusual form of nonrhizomelic chondrodysplasia punctata: Case report and review

Marja W. Wessels; Nicolette J. Den Hollander; Ronald R. De Krijger; Peter G.J. Nikkels; Helen Brandenburg; Raoul Hennekam; Patrick J. Willems

doi:10.1002/ajmg.a.20202

Fetus with an unusual form of nonrhizomelic chondrodysplasia punctata: Case report and review

Marja W. Wessels, Nicolette J. Den Hollander, Ronald R. De Krijger, Peter G.J. Nikkels, Helen Brandenburg, Raoul Hennekam, Patrick J. Willems

Onderzoeksoutput: Bijdrage aan tijdschrift › Artikel recenseren › peer review

21 Citaten (Scopus)

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Chondrodysplasia punctata (CDP) is a heterogeneous condition mainly characterized by premature and ectopic calcification of cartilage. Many genetic and nongenetic causes have been described leading to a preliminar etiological classification into defects of peroxisomal metabolism, defects in cholesterol metabolism, and vitamin K (vit K) metabolism. However, numerous cases of CDP still remain unclassified. The difficulties in reaching a causal diagnosis are illustrated here by a 23-week-old fetus with nonrhizomelic CDP characterized by extensive cartilage stippling, brachyphalangy, and nasal hypoplasia.

Originele taal-2	Engels
Pagina's (van-tot)	97-104
Aantal pagina's	8
Tijdschrift	American Journal of Medical Genetics
Volume	120 A
Nummer van het tijdschrift	1
DOI's	https://doi.org/10.1002/ajmg.a.20202
Status	Gepubliceerd - 1 jul. 2003
Extern gepubliceerd	Ja

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10.1002/ajmg.a.20202

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title = "Fetus with an unusual form of nonrhizomelic chondrodysplasia punctata: Case report and review",

abstract = "Chondrodysplasia punctata (CDP) is a heterogeneous condition mainly characterized by premature and ectopic calcification of cartilage. Many genetic and nongenetic causes have been described leading to a preliminar etiological classification into defects of peroxisomal metabolism, defects in cholesterol metabolism, and vitamin K (vit K) metabolism. However, numerous cases of CDP still remain unclassified. The difficulties in reaching a causal diagnosis are illustrated here by a 23-week-old fetus with nonrhizomelic CDP characterized by extensive cartilage stippling, brachyphalangy, and nasal hypoplasia.",

keywords = "Brachyphalangic type, Cartilage calcification, Chondrodysplasia punctata, Maternal lupus erythematosus, Prenatal diagnosis, Review, Stippling, Ultrasound, Vit K",

author = "Wessels, {Marja W.} and {Den Hollander}, {Nicolette J.} and {De Krijger}, {Ronald R.} and Nikkels, {Peter G.J.} and Helen Brandenburg and Raoul Hennekam and Willems, {Patrick J.}",

year = "2003",

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T1 - Fetus with an unusual form of nonrhizomelic chondrodysplasia punctata

T2 - Case report and review

AU - Wessels, Marja W.

AU - Den Hollander, Nicolette J.

AU - De Krijger, Ronald R.

AU - Nikkels, Peter G.J.

AU - Brandenburg, Helen

AU - Hennekam, Raoul

AU - Willems, Patrick J.

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Y1 - 2003/7/1

N2 - Chondrodysplasia punctata (CDP) is a heterogeneous condition mainly characterized by premature and ectopic calcification of cartilage. Many genetic and nongenetic causes have been described leading to a preliminar etiological classification into defects of peroxisomal metabolism, defects in cholesterol metabolism, and vitamin K (vit K) metabolism. However, numerous cases of CDP still remain unclassified. The difficulties in reaching a causal diagnosis are illustrated here by a 23-week-old fetus with nonrhizomelic CDP characterized by extensive cartilage stippling, brachyphalangy, and nasal hypoplasia.

AB - Chondrodysplasia punctata (CDP) is a heterogeneous condition mainly characterized by premature and ectopic calcification of cartilage. Many genetic and nongenetic causes have been described leading to a preliminar etiological classification into defects of peroxisomal metabolism, defects in cholesterol metabolism, and vitamin K (vit K) metabolism. However, numerous cases of CDP still remain unclassified. The difficulties in reaching a causal diagnosis are illustrated here by a 23-week-old fetus with nonrhizomelic CDP characterized by extensive cartilage stippling, brachyphalangy, and nasal hypoplasia.

KW - Brachyphalangic type

KW - Cartilage calcification

KW - Chondrodysplasia punctata

KW - Maternal lupus erythematosus

KW - Prenatal diagnosis

KW - Review

KW - Stippling

KW - Ultrasound

KW - Vit K

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Fetus with an unusual form of nonrhizomelic chondrodysplasia punctata: Case report and review

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