Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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
Branchio-okulo-faziales Syndrom
Ehlers-Danlos-Syndrom bei Tenascin-X-Mangel
Kongenitale Kontraktur-Arachnodaktylie
Lakrimo-aurikulo-dento-digitales Syndrom
Lippen-Kiefer-Gaumenspalte 11
Parodontales Ehlers-Danlos-Syndrom
Renale tubuläre Azidose mit Arthrogrypose
Simpson-Golabi-Behmel-Syndrom
Syndrom der multiplen Synostosen 3
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.

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

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2.

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

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3.

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

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4.

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

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5.

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

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6.

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

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7.

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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8.

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

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9.

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

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10.

None (1977) More on anal deformities.

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11.

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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12.

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

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13.

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

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14.

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

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15.

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

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16.

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

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17.

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

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18.

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

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19.

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

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20.

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

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21.

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

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22.

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

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23.

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

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24.

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

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25.

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

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26.

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

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