Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

Asphyxierende Thoraxdyplasie 01

Das SRTD-Syndrom 1 (Short-rib thoracic dysplasia) ist eine hereditäre Erkrankung, deren genetischer Hintergrund noch nicht vollständig geklärt ist.

Gliederung

Asphyxierende Thoraxdyplasie
Asphyxierende Thoraxdyplasie 01
Asphyxierende Thoraxdyplasie 02
Asphyxierende Thoraxdyplasie 03
Asphyxierende Thoraxdyplasie 04
Asphyxierende Thoraxdyplasie 05
Asphyxierende Thoraxdyplasie 06
Asphyxierende Thoraxdyplasie 07
Asphyxierende Thoraxdyplasie 08
Asphyxierende Thoraxdyplasie 09
Asphyxierende Thoraxdyplasie 10
Asphyxierende Thoraxdyplasie 11
Asphyxierende Thoraxdyplasie 12
Asphyxierende Thoraxdyplasie 13
Asphyxierende Thoraxdyplasie 14
Asphyxierende Thoraxdyplasie 15
Asphyxierende Thoraxdyplasie 16
Asphyxierende Thoraxdyplasie 17
Asphyxierende Thoraxdyplasie 18
Asphyxierende Thoraxdyplasie 19

Referenzen:

1.

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

external link
2.

Turkel SB et al. (1985) Necropsy findings in neonatal asphyxiating thoracic dystrophy.

external link
3.

Shapira E et al. (1965) Syndrome of incomplete regional achondroplasia (ilium and ribs) with abdominal muscle dysplasia.

external link
4.

Karjoo M et al. (1973) Pancreatic exocrine enzyme deficiency associated with asphyxiating thoracic dystrophy.

external link
5.

Barnes ND et al. (1971) Chest reconstruction in thoracic dystrophy.

external link
6.

Shokeir MH et al. (1971) Asphyxiating thoracic chondrodystrophy. Association with renal disease and evidence for possile heterozygous expression.

external link
7.

Finegold MJ et al. (1971) Lung structure in thoracic dystrophy.

external link
8.

Herdman RC et al. (1968) The thoracic asphyxiant dystrophy and renal disease.

external link
9.

Barnes ND et al. (1969) Thoracic dystrophy.

external link
10.

Pirnar T et al. (1966) Asphyxiating thoracic dystrophy of the newborn.

external link
11.

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

external link
12.

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

external link
13.

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

external link
14.

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

external link
15.

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

external link
16.

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

external link
17.

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

external link
18.

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

external link
19.

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

external link
20.

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

external link
21.

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

external link
22.

Elejalde BR et al. (1985) Prenatal diagnosis of Jeune syndrome.

external link
23.

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

external link
24.

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

external link
25.

Hopper MS et al. (1979) Polyhydramnios associated with congenital pancreatic cysts and asphyxiating thoracic dysplasia. A case report.

external link
26.

Allen AW et al. (1979) Ocular findings in thoracic-pelvic-phalangeal dystrophy.

external link
27.

Cortina H et al. (1979) The wide spectrum of the asphyxiating thoracic dysplasia.

external link
28.

Bard LA et al. (1978) Retinal involvement in thoracic-pelvic-phalangeal dystrophy.

external link
29.

Kozlowski K et al. (1976) Asphyxiating thoracic dystrophy without respiratory disease: report of two cases of the latent form.

external link
30.

Tahernia AC et al. (1977) "Jeune syndrome" (asphyxiating thoracic dystrophy). Report of a case, a review of the literature, and an editor's commentary.

external link
31.

Oberklaid F et al. (1977) Asphyxiating thoracic dysplasia. Clinical, radiological, and pathological information on 10 patients.

external link
32.

Yang SS et al. (1976) Lethal short-limbed chondrodysplasia in early infancy.

external link
33.

Friedman JM et al. (1975) The Jeune syndrome (asphyxiating thoracic dystrophy) in an adult.

external link
34.

Rinaldi S et al. (1990) Jeune syndrome associated with cystinuria: report of two sisters.

external link
35.

Giorgi PL et al. (1990) Mild form of Jeune syndrome in two sisters.

external link
36.

Whitley CB et al. (1987) Direct hyperbilirubinemia and hepatic fibrosis: a new presentation of Jeune syndrome (asphyxiating thoracic dystrophy).

external link
37.

Singh M et al. (1988) Hydrocephalus in asphyxiating thoracic dystrophy.

external link
38.

Wilson DJ et al. (1987) Retinal dystrophy in Jeune's syndrome.

external link
39.

Burn J et al. (1986) Autosomal dominant thoracolaryngopelvic dysplasia: Barnes syndrome.

external link
40.

Schinzel A et al. (1985) Prenatal sonographic diagnosis of Jeune syndrome.

external link
41.

Todd DW et al. (1986) A thoracic expansion technique for Jeune's asphyxiating thoracic dystrophy.

external link
42.

OMIM.ORG article

Omim 208500 external link
Update: 14. August 2020
Copyright © 2005-2020 Zentrum für Nephrologie und Stoffwechsel, Dr. Mato Nagel
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Deutschland, Tel.: +49-3576-287922, Fax: +49-3576-287944
Seitenüberblick | Webmail | Haftungsausschluss | Datenschutz