Dominant sex‐linked inherited chondrodysplasia punctata: a distinct type of chondrodysplasia punctata

Manzke, H; Christophers, Enno; Wiedemann, H. R.

doi:10.1111/j.1399-0004.1980.tb00115.x

Cited by 51 publications

(7 citation statements)

References 16 publications

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“…Recently, the existence of three different types of chondrodysplasia punctata has been proposed (Happle et al 1977, Happle 1979. This concept has been confirmed by other authors (Joosten & Habedank 1979, Manzke et al 1980. A reexamination of the cases collected by Spranger et al (1971) and Happle (1979) revealed that the occurrence of cataracts may help to distinguish between these types.…”

supporting

confidence: 62%

Cataracts as a marker of genetic heterogeneity in chondrodysplasia punctata

Happle

1981

Clinical Genetics

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Cataracts are suggested as a diagnostic marker to differentiate between the three types of chondrodysplasia punctata so far known. Both the rhizomelic and the X-linked dominant types are associated with cataracts in about two-thirds of the cases. In the rhizomelic type, the opacities tend to be bilateral and symmetrical. In the X-linked dominant type they are usually asymmetrical and often unilateral. In contrast, the consistent lack of cataracts is characteristic of the autosomal dominant type of chondrodysplasia punctata.

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supporting

confidence: 62%

Cataracts as a marker of genetic heterogeneity in chondrodysplasia punctata

Happle

1981

Clinical Genetics

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“…Principal characteristics of this syndrome observed in females include radiographic stippling of the epiphyses (often in an asymmetric distribution), a depressed nasal bridge, scoliosis, short stature, congenital cataracts, and a collection of patchy skin changes, such as ichthyosis, follicular atrophoderma, pigmentary dysplasias, and cicatricial alopecia [Happle, 1979;Manske et al, 1980;Braverman et al, 1999;Has et al, 2000;Ikegawa et al, 2000]. The rare males reported with the X-linked dominant trait of CDPX2 appear to have a range of phenotypes including findings that occur in affected females [Sutphen et al, 1995;Aughton et al, 2003;Milunsky et al, 2003].…”

Section: Introductionmentioning

confidence: 99%

A novel X‐linked multiple congenital anomaly syndrome associated with an EBP mutation

Furtado

Bayrak-Toydemir

Hulinsky

et al. 2010

American J of Med Genetics Pt A

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Mutations of the gene coding for emopamil binding protein (EBP) can lead to deficient activity of 3-β-hydroxysteroid Δ(8), Δ(7) isomerase and are most commonly identified in. association with the X-linked dominant (male lethal) chondrodysplasia punctata (CDPX2), also known as Conradi-Hunermann syndrome. Our group has identified a hemizygous EBP mutation in males with a phenotype remarkable for Dandy-Walker malformation, cataracts, collodion skin and cryptorchidism. Additional findings of hydrocephalus, dysplasia of the corpus callosum, cardiovascular, craniofacial and skeletal anomalies were regularly seen in affected males and the family histories were supportive of an X-linked -recessive condition. The regularly reproducible constellation of cardinal features aligns very nicely with other disorders of sterol biosynthesis and is further distinguished by an absence of arty clinical manifestations in obligate carrier females. Biochemical analysis of blood from cases demonstrated markedly increased levels of 8(9)-cholestenol, and 8-dehydroeholesterol and a mildly increased level of 7-dehydrocholesterol; a similar pattern to what is seen in CDPX2. Sequence analysis of EJJP revealed a novel hemizygous missense mutation at position 141, predictive of a tryptophan to cysteine substitution (c.141G>T, p.W47C). The unaffected mothers were heterozygous for the c.141G>T mutation arid showed random X-inactivation pattern upon.

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“…1c) is a severe X-linked dominant type of generalized CDP (Manzke et al, 1980;Kalter et al, 1989), lethal in hemizygous males (Happle et al, 1977), although surviving affected males have been described (Happle, 1995;Sutphen et al, 1995). A most notable feature of this group is the asymmetric pattern of abnormalities, characterized in part by truncal congenital ichthyosiform erythroderma, which subsequently develops within a few months, becoming follicular atrophoderma with hypopigmented and hyperpigmented whorls; ichthyosis remains on the arms and legs.…”

Section: Group 1: Inborn Errors Of Metabolismmentioning

confidence: 94%

Chondrodysplasia punctata: a clinical diagnostic and radiological review

Irving

Chitty

Mansour

et al. 2008

Clinical Dysmorphology

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Chondrodysplasia punctata (CDP) is associated with a number of disorders, including inborn errors of metabolism, involving peroxisomal and cholesterol pathways, embryopathy and chromosomal abnormalities. Several classification systems of the different types of CDP have been suggested earlier. More recently, the biochemical and molecular basis of a number of CDP syndromes has recently been elucidated and a new aetiological classification has emerged. Here we provide an updated version with an overview of the different types of CDP, a discussion of the aetiology and a description of the clinical and radiographic findings. An investigative guideline to help determine the exact diagnosis in new cases is also presented.

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Dominant sex‐linked inherited chondrodysplasia punctata: a distinct type of chondrodysplasia punctata

Cited by 51 publications

References 16 publications

Cataracts as a marker of genetic heterogeneity in chondrodysplasia punctata

Cataracts as a marker of genetic heterogeneity in chondrodysplasia punctata

A novel X‐linked multiple congenital anomaly syndrome associated with an EBP mutation

Chondrodysplasia punctata: a clinical diagnostic and radiological review

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