�ber die Formen der congenitalen Poikilodermie

Wodniansky, Peter

doi:10.1007/bf00693522

Cited by 29 publications

(9 citation statements)

References 22 publications

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“…1 [19][20][21][22][23][24][25] To explain the marked preponderance of females, X linked dominant inheritance with lethality in hemizygous males has been proposed. A high incidence of miscarriage in some families has been reported, 6 and there has been no reported case of transmission from father to son.…”

Section: Inheritancementioning

confidence: 99%

Focal dermal hypoplasia (Goltz syndrome).

Temple¹,

MacDowall²,

Baraitser³

et al. 1990

Journal of Medical Genetics

101

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Section: Inheritancementioning

confidence: 99%

Focal dermal hypoplasia (Goltz syndrome).

Temple¹,

MacDowall²,

Baraitser³

et al. 1990

Journal of Medical Genetics

101

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“…This is clear from occasional appearance of polydactyly. As was pointed out by D aly [7], skin changes are sometimes very slight or may be absent [35]. In such a case, dermal symptoms are being over-emphasized.…”

Section: Discussionmentioning

confidence: 91%

Goltz’s Syndrome: Focal Dermal Dysplasia Syndrome (Focal Dermal Hypoplasia)

Ishibashi¹,

Kurihara²

1972

Dermatology

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The case of a Japanese girl who had deformities of bone and joints on the right side, and bilateral exanthemas and tooth anomaly (hypoplasia) is reported. This congenital disorder is a mesodermal ‘dysplasia’, with some ectodermal participation. In the literature, pedigrees of patients with familial occurrence suggest a dominant mode of inheritance; their family data do not deny the Goltz hypothesis that an excess number of females is due to genes which are lethal in males. New mutation should be present because selection was certainly present by the lack of offspring. There might be cases due to phenocopy. Possible environmental factors for maldevelopment were collected from the literature and from our case.

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“…In a review of the literature we identified only nine female patients with structural CNS abnormalities in association with FDH, as reviewed in Table 1. Neurologic features described in association with FDH include hydrocephalus (13,16, this case), myelomeningocele with Arnold-Chiari malformation (13, this case), spina bifida (15,(17)(18)(19)(20), agenesis of the corpus callosum (20), cerebral atrophy (21), and epilepsy with cerebellar dysplasia (22; Table 1). Of the cases reviewed (including the case reported), six had microcephaly and five were reported to have mental retardation.…”

Section: Discussionmentioning

confidence: 99%

Focal Dermal Hypoplasia: Report of a Case with Myelomeningocele, Arnold–Chiari Malformation and Hydrocephalus with a Review of Neurologic Manifestations of Goltz Syndrome

Peters

Perrier

Haber

2014

Pediatric Dermatology

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Focal dermal hypoplasia (Goltz syndrome, Online Mendelian Inheritance in Man [OMIM] 305600) is a rare X-linked dominant congenital disorder involving defects of mesodermal- and ectodermal-derived structures. It is associated with mutations in the PORCN gene, a regulator of Wnt signaling proteins. The phenotype is highly variable, although all describe characteristic skin findings as a primary diagnostic feature. To date there are few case reports of focal dermal hypoplasia associated with central nervous system abnormalities. We report the second case of focal dermal hypoplasia associated with myelomenigocele, Arnold-Chiari malformation and hydrocephalus and the first in a male. Genetic testing identified a novel mosaic three base pair deletion within the PORCN gene (c.853_855delACG). This case highlights the importance of neurological evaluation in focal dermal hypoplasia and consideration of other syndromes more commonly associated with central nervous system abnormalities. In this report we summarize the literature on neurological manifestations in Goltz syndrome.

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�ber die Formen der congenitalen Poikilodermie

Cited by 29 publications

References 22 publications

Focal dermal hypoplasia (Goltz syndrome).

Focal dermal hypoplasia (Goltz syndrome).

Goltz’s Syndrome: Focal Dermal Dysplasia Syndrome (Focal Dermal Hypoplasia)

Focal Dermal Hypoplasia: Report of a Case with Myelomeningocele, Arnold–Chiari Malformation and Hydrocephalus with a Review of Neurologic Manifestations of Goltz Syndrome

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