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Townes-Brocks-Syndrome

Das Townes-Brocks-Syndrome ist ein Fehlbildungssyndrom, welches vor allem durch eine Analatresie, Ohrdysplasie und Fehlbildungen des Daumens gekennzeichnet ist. Seltener finden sich auch Hörstörung, Fehlbildungen der Füße, Nierenfunktionsstörungen, Urogenitale Fehlbildungen und Herzfehler. Zwei Gene sind bisher bekannt dieses Syndrom auszulösen. Zum Teil zeigt die Erkrankung Ähnlichkeiten mit der Branchio-Oto-Renalen Dysplasie.

Gliederung

Angeborene Skelettfelbildungen
Al-Gazali-Bakalinova-Syndrom
Brachydaktylie
Branchio-okulo-faziales Syndrom
Ehlers-Danlos-Syndrom bei Tenascin-X-Mangel
Hydrolethalus 2
Kongenitale Kontraktur-Arachnodaktylie
Lakrimo-aurikulo-dento-digitales Syndrom
Lippen-Kiefer-Gaumenspalte 11
Multiple Synostosen
Orofaciodigitales Syndrom
Parodontales Ehlers-Danlos-Syndrom
Proximaler Symphalangismus
Renale tubuläre Azidose mit Arthrogrypose
Simpson-Golabi-Behmel-Syndrom
Stapesankylose mit breiten Daumen und Zehen
Syndaktylie Typ 5
Syndrom der multiplen Synostosen 3
Synpolydaktylie Typ 1
Tarsal-Karpal-Fusions-Syndrom
Tatton-Brown-Rahman-Syndrom
Townes-Brocks-Syndrome
SALL1
Townes-Brocks-Branchio-Oto-Renales Syndrome
SALL1
Townes-Brocks-Syndrome 1
SALL1
Townes-Brocks-Syndrome 2
DACT1
Trigonocephalie 2
Van Maldergem-Syndrom 2

Referenzen:

1.

Kohlhase J et al. (1998) Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome.

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2.

Sudo Y et al. (2010) Phenotypic variability in a family with Townes-Brocks syndrome.

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3.

Doray B et al. (1999) Two cases of Townes-Brocks syndrome.

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4.

Powell CM et al. (1999) Townes-Brocks syndrome.

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5.

Newman WG et al. (1997) Townes-Brocks syndrome presenting as end stage renal failure.

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6.

Ishikiriyama S et al. (1996) Townes-Brocks syndrome associated with mental retardation.

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7.

Johnson JP et al. (1996) Three-generation family with resemblance to Townes-Brocks syndrome and Goldenhar/oculoauriculovertebral spectrum.

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8.

Walpole IR et al. (1982) Syndrome of imperforate anus, abnormalities of hands and feet, satyr ears, and sensorineural deafness.

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9.

None (1984) Phenotypic variability in Townes-Brocks syndrome.

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10.

Townes PL et al. (1972) Hereditary syndrome of imperforate anus with hand, foot, and ear anomalies.

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11.

Silver W et al. (1972) The Holt-Oram syndrome with previously undescribed associated anomalies.

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12.

de Vries-Van der Weerd MA et al. (1988) A new family with the Townes-Brocks syndrome.

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13.

Ferraz FG et al. (1989) Townes-Brocks syndrome. Report of a case and review of the literature.

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14.

O'Callaghan M et al. (1990) The Townes-Brocks syndrome.

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15.

Cameron TH et al. (1991) Townes-Brocks syndrome in two mentally retarded youngsters.

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16.

Reid IS et al. (1976) Familial and abnormality.

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17.

Egan EA et al. (1977) Additional experience with routine use of oral kanamycin prophylaxis for necrotizing enterocolitis in infants under 1,500 grams.

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18.

None (1977) More on anal deformities.

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19.

Kurnit DM et al. (1978) Autosomal dominant transmission of a syndrome of anal, ear, renal, and radial congenital malformations.

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20.

Furniss D et al. (2007) Nonsense-mediated decay and the molecular pathogenesis of mutations in SALL1 and GLI3.

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21.

Kosaki R et al. (2007) Wide phenotypic variations within a family with SALL1 mutations: Isolated external ear abnormalities to Goldenhar syndrome.

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22.

Botzenhart EM et al. (2005) SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype.

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23.

Albrecht B et al. (2004) Atypical phenotype and intrafamilial variability associated with a novel SALL1 mutation.

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24.

Surka WS et al. (2001) Unique family with Townes-Brocks syndrome, SALL1 mutation, and cardiac defects.

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25.

Engels S et al. (2000) A SALL1 mutation causes a branchio-oto-renal syndrome-like phenotype.

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26.

Serville F et al. (1993) Townes-Brocks syndrome in an infant with translocation t (5;16).

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27.

OMIM.ORG article

Omim 107480 external link
28.

Orphanet article

Orphanet ID 857 external link
Update: 14. August 2020
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