Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Autosomal dominantes Robinow-Syndrom 1

Das Robinow-Syndrom 1 ist eine autosomal dominante Erkrankung, die durch Mutationen im WNT5A-Gen ausgelöst wird. Es finden sich verschiedene Fehlbildungen. An der Niere ist insbesondere die Hydronephrose typisch.

Gliederung

Angeborene Fehlbildungen des Urogenitalsystems
Autosomal dominantes Robinow-Syndrom 1
WNT5A
BNAR-Syndrom
Branchio-Oto-Renale Dysplasie
Branchiootische Syndrom
Denys-Drash-Syndrom
Fraser-Syndrom
Frasier-Syndrom
Goldberg-Shprintzen-Syndrom
Mowat-Wilson-Syndrom
Nierenzysten und Diabetes (RCAD)
Papillorenales Syndrom
Renal Dysplasie mit Hypopituitarismus und Diabetes
Renal-hepatisch-pankreatische Dysplasie
Renale Hypodysplasie/Aplasie
Renotubuläre Dysgenesie
SERKAL-Syndrom
Syndromische Microphthalmie 6
Vesicoureteraler Reflux
WAGR-Syndrom

Referenzen:

1.

Robinow M et. al. (1969) A newly recognized dwarfing syndrome.

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2.

Oishi I et. al. (2003) The receptor tyrosine kinase Ror2 is involved in non-canonical Wnt5a/JNK signalling pathway.

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3.

Person AD et. al. (2010) WNT5A mutations in patients with autosomal dominant Robinow syndrome.

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4.

Roifman M et. al. (2015) De novo WNT5A-associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype.

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5.

Kelly TE et. al. (1975) The Robinow syndrome: an isolated case with a detailed study of the phenotype.

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6.

Baxová A et. al. (1989) [2 cases of Robinow's syndrome with mental retardation].

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7.

Israel H et. al. (1988) Craniofacial pattern similarities and additional orofacial findings in siblings with the Robinow syndrome.

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8.

Butler MG et. al. (1987) Robinow syndrome: report of two patients and review of literature.

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9.

Bain MD et. al. (1986) Robinow syndrome without mesomelic 'brachymelia': a report of five cases.

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10.

None (1985) Umbilical dysmorphology. The importance of contemplating the belly button.

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11.

None (1973) Robinow dwarfing syndrome accompanied by penile agenesis and hemivertebrae.

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12.

None (1973) A syndrome's progress.

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13.

Wadlington WB et. al. (1973) Mesomelic dwarfism with hemivertebrae and small genitalia (the Robinow syndrome).

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14.

Schinzel A et. al. (1974) Fetal face syndrome with acral dysostosis.

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15.

Lee PA et. al. (1982) Robinow's syndrome. Partial primary hypogonadism in pubertal boys, with persistence of micropenis.

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16.

Petit P et. al. (1980) The Robinow syndrome.

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17.

Shprintzen RJ et. al. (1982) Male-to-male transmission of Robinow's syndrome. Its occurrence in association with cleft lip and cleft palate.

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18.

Vallée L et. al. () [Robinow's syndrome with dominant transmission].

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19.

Türken A et. al. (1996) A large inguinal hernia with undescended testes and micropenis in Robinow syndrome.

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20.

Kantaputra PN et. al. (1999) Robinow (fetal face) syndrome: report of a boy with dominant type and an infant with recessive type.

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21.

Patton MA et. al. (2002) Robinow syndrome.

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22.

Mazzeu JF et. al. (2007) Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome.

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23.

Beiraghi S et. al. (2011) Craniofacial and intraoral phenotype of Robinow syndrome forms.

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