Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

SRTD-Syndrom (Short-rib thoracic dysplasia)

SRTD-Syndrom (Short-rib thoracic dysplasia) ist eine Gruppe von Knochendeformationen, die durch einen engen Thorax und Polydaktylie gekennzeichnet sind.

Gliederung

Ziliopathie
Acrocallosal Syndrom
COACH-Syndrom
Joubert-Syndrom
Kranioektodermale Dysplasie
Lebersche kongenitale Amaurose
Malformationen der Rechts-Links-Achse
Meckel-Syndrom
Nephronophthise
Primäre ziliäre Dyskinesie 3 mit oder ohne Situs inversus
SRTD-Syndrom (Short-rib thoracic dysplasia)
SRTD-Syndrom (Short-rib thoracic dysplasia) 01
SRTD-Syndrom (Short-rib thoracic dysplasia) 02
IFT80
SRTD-Syndrom (Short-rib thoracic dysplasia) 03
DYNC2H1
SRTD-Syndrom (Short-rib thoracic dysplasia) 04
TTC21B
SRTD-Syndrom (Short-rib thoracic dysplasia) 05
WDR19
SRTD-Syndrom (Short-rib thoracic dysplasia) 06
NEK1
SRTD-Syndrom (Short-rib thoracic dysplasia) 07
WDR35
SRTD-Syndrom (Short-rib thoracic dysplasia) 08
WDR60
SRTD-Syndrom (Short-rib thoracic dysplasia) 09
IFT140
SRTD-Syndrom (Short-rib thoracic dysplasia) 10
IFT172
SRTD-Syndrom (Short-rib thoracic dysplasia) 11
WDR34
SRTD-Syndrom (Short-rib thoracic dysplasia) 12
SRTD-Syndrom (Short-rib thoracic dysplasia) 13
CEP120
SRTD-Syndrom (Short-rib thoracic dysplasia) 14
KIAA0586
SRTD-Syndrom (Short-rib thoracic dysplasia) 15
DYNC2LI1
SRTD-Syndrom (Short-rib thoracic dysplasia) 16
IFT52
SRTD-Syndrom (Short-rib thoracic dysplasia) 17
TCTEX1D2
SRTD-Syndrom (Short-rib thoracic dysplasia) 18
IFT43
SRTD-Syndrom (Short-rib thoracic dysplasia) 19
IFT81
Senior-Loken-Syndrom

Referenzen:

1.

Merrill AE et. al. (2009) Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome.

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2.

Dagoneau N et. al. (2009) DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III.

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3.

Thiel C et. al. (2011) NEK1 mutations cause short-rib polydactyly syndrome type majewski.

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4.

El Hokayem J et. al. (2012) NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases.

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5.

Schmidts M et. al. (2013) Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement.

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6.

Duran I et. al. (2016) Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome.

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7.

Tüysüz B et. al. (2009) Clinical variability of asphyxiating thoracic dystrophy (Jeune) syndrome: Evaluation and classification of 13 patients.

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8.

Schmidts M et. al. (2013) Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy.

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9.

Mill P et. al. (2011) Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis.

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10.

Zhang W et. al. (2016) IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome.

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11.

Huber C et. al. (2012) Ciliary disorder of the skeleton.

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12.

Balci S et. al. (1991) Familial short rib syndrome, type Beemer, with pyloric stenosis and short intestine, one case diagnosed prenatally.

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13.

None (1988) A lethal short rib syndrome without polydactyly.

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14.

None (1983) Familial occurrence of a short rib syndrome with hydrops fetalis but without polydactyly.

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15.

Beemer FA et. al. (1983) A new short rib syndrome: report of two cases.

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16.

None (1994) Further delineation of the Beemer-Langer syndrome using concordance rates in affected sibs.

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17.

Cideciyan D et. al. (1993) New findings in short rib syndrome.

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18.

Elçioğlu N et. al. (1996) Short rib-polydactyly syndrome in twins: Beemer-Langer type with polydactyly.

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19.

Kovács N et. al. (2006) High incidence of short rib-polydactyly syndrome type IV in a Hungarian Roma subpopulation.

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20.

Hanissian AS et. al. (1967) Infantile thoracic dystrophy--a variant of Ellis-Van Creveld syndrome.

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21.

None (1980) Renal lesion in Jeune's syndrome.

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22.

Landing BH et. al. (1980) Morphometric analysis of liver lesions in cystic diseases of childhood.

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23.

Zack P et. al. (1995) Spondyloenchondromatosis: syndromic identity and evolution of the phenotype.

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24.

Takada F et. al. (1994) Asphyxiating thoracic dystrophy: surgical correction and 2-year follow-up in a girl.

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25.

Labrune P et. al. (1999) Jeune syndrome and liver disease: report of three cases treated with ursodeoxycholic acid.

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26.

Kajantie E et. al. (2001) Familial asphyxiating thoracic dysplasia: clinical variability and impact of improved neonatal intensive care.

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27.

Morgan NV et. al. (2003) A locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q13.

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28.

JEUNE M et. al. (1955) [Asphyxiating thoracic dystrophy with familial characteristics].

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29.

MAROTEAUX P et. al. (1964) [ASPHYXIATING THROACIC DYSTROPHY. RADIOLOGICAL STUDY AND RELATION TO THE ELLIS-VAN CREVELD SYNDROME].

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30.

Lehman AM et. al. (2010) Co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy.

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31.

Elçioglu NH et. al. (2002) Diagnostic dilemmas in the short rib-polydactyly syndrome group.

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32.

Takamine Y et. al. (2004) Mutations in the EVC1 gene are not a common finding in the Ellis-van Creveld and short rib-polydactyly type III syndromes.

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Update: 28. März 2018