Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

autosomal rezessives Robinow-Syndrom

Das autosomal rezessive Robinow-Syndrom ist eine angeborene Knochenerkrankung, die durch Mutationen im ROR2-Gen hervorgerufen wird. Sie ist durch Kleinwuchs aufgrund verkürzter Extremitäten, costovertebrale Segmentierungsdefekte und verschiedene Abnormalitäten des Gesichtsschädels, der äußeren Genitale und Nieren gekennzeichnet.

Gliederung

Angeborene Fehlbildungen des Urogenitalsystems
Akro-reno-okuläres Syndrom
Autosomal dominantes Robinow-Syndrom 1
BMP7
BNAR-Syndrom
Branchio-okulo-faziales Syndrom
Branchio-oto-renale Dysplasie
Branchiootische Syndrom
CHARGE-Syndrom
CHD1L
Denys-Drash-Syndrom
Fraser-Syndrom
Frasier-Syndrom
Goldberg-Shprintzen-Syndrom
Hirnmalformation mit Urogenitaldefekten
IVIC-Syndrom
Ivemark-Syndrom
Kabuki-Syndrom
Kongenitale Anomalien der Niere und des Harntraktes 1
Kongenitale Anomalien der Niere und des Harntraktes 2
Kongenitaler hypogonadotroper Hypogonadismus mit Anosmie 1
Kongenitaler hypogonadotroper Hypogonadismus ohne Anosmie 5
Lakrimo-aurikulo-dento-digitales Syndrom
Mowat-Wilson-Syndrom
Neigung zu zystischen Nierenfehlbildung
Nierenzysten und Diabetes (RCAD)
Papillorenales Syndrom
Renal Dysplasie mit Hypopituitarismus und Diabetes
Renal-hepatisch-pankreatische Dysplasie
Renale Hypodysplasie/Aplasie
Renotubuläre Dysgenesie
SERKAL-Syndrom
Simpson-Golabi-Behmel-Syndrom
Smith-Lemli-Opitz-Syndrom
Somatisches Nephroblastom
Syndromische Microphthalmie 6
Tränen- und Speicheldrüsenaplasie
Urofaziales Syndrom
Vesicoureteraler Reflux
WAGR-Syndrom
autosomal rezessives Robinow-Syndrom
ROR2

Referenzen:

1.

Afzal AR et. al. (2000) Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2.

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2.

van Bokhoven H et. al. (2000) Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome.

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3.

Schwabe GC et. al. (2000) Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B.

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4.

Schwabe GC et. al. (2004) Ror2 knockout mouse as a model for the developmental pathology of autosomal recessive Robinow syndrome.

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5.

Tufan F et. al. (2005) Clinical and molecular characterization of two adults with autosomal recessive Robinow syndrome.

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6.

Brunetti-Pierri N et. al. (2008) Robinow syndrome: phenotypic variability in a family with a novel intragenic ROR2 mutation.

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7.

Schwarzer W et. al. (2009) A gradient of ROR2 protein stability and membrane localization confers brachydactyly type B or Robinow syndrome phenotypes.

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8.

Nazer H et. al. (1990) Concurrence of Robinow syndrome and Crigler-Najar syndrome in two offspring of first cousins.

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9.

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

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10.

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

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11.

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

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12.

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

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13.

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

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14.

None (1979) Covesdem syndrome.

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15.

Wadia RS et. al. (1978) Recessively inherited costovertebral segmentation defect with mesomelia and peculiar facies (Covesdem syndrome): A new genetic entity?

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16.

Schorderet DF et. al. (1992) Robinow syndrome in two siblings from consanguineous parents.

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17.

None (1990) Autosomal recessive Robinow syndrome.

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18.

Glaser D et. al. (1989) Robinow syndrome with parental consanguinity.

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19.

Saal HM et. al. (1988) Autosomal recessive Robinow-like syndrome with anterior chamber cleavage anomalies.

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20.

None (1987) Comment on COVESDEM syndrome.

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21.

Aymé S et. al. (1986) Spondylocostal/spondylothoracic dysostosis: the clinical basis for prognosticating and genetic counseling.

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22.

Balci S et. al. (1993) Robinow syndrome: with special emphasis on dermatoglyphics and hand malformations (split hand).

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23.

Sabry MA et. al. (1997) Unusual traits associated with Robinow syndrome.

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24.

Akşit S et. al. (1997) Is the frequency of Robinow syndrome relatively high in Turkey? Four more case reports.

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25.

Balci S et. al. (1998) Robinow syndrome, vaginal atresia, hematocolpos, and extra middle finger.

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26.

Soliman AT et. al. (1998) Recessive Robinow syndrome: with emphasis on endocrine functions.

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27.

Afzal AR et. al. (2000) Linkage of recessive Robinow syndrome to a 4 cM interval on chromosome 9q22.

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Update: 26. September 2018

 

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