Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Blomstrand-Chondrodysplasie

Blomstrand-Chondrodysplasie ist eine autosomal rezessive Erkrankung, die durch inaktivierende Mutationen im PTHR1-Gen hervorgerufen wird. Die Betroffenen sterben kurz nach der Geburt mit schweren Fehlbildungen des Skelettsystems.

Gliederung

Knochendysplasie
Achondroplasie
Antley-Bixler-Syndrom 1
Antley-Bixler-Syndrom 2
Apert-Syndrom
Blomstrand-Chondrodysplasie
PTH1R
Brachydaktylie Typ E2
Crouzon-Syndrom
Eiken-Syndrom
McCune-Albright-Syndrom
Muenke-Syndrom
Murk-Jansen metaphyseale Chondrodysplasie
Osteopathia striata mit kranialer Sklerose
Schimke-Dysplasie
Thanatophore Dysplasie 1
Thanatophore Dysplasie 2
Zahnbildungsstörungen

Referenzen:

1.

Blomstrand S et. al. (1985) A case of lethal congenital dwarfism with accelerated skeletal maturation.

[^]
2.

Loshkajian A et. al. (1997) Familial Blomstrand chondrodysplasia with advanced skeletal maturation: further delineation.

[^]
3.

Jobert AS et. al. (1998) Absence of functional receptors for parathyroid hormone and parathyroid hormone-related peptide in Blomstrand chondrodysplasia.

[^]
4.

Zhang P et. al. (1998) A homozygous inactivating mutation in the parathyroid hormone/parathyroid hormone-related peptide receptor causing Blomstrand chondrodysplasia.

[^]
5.

Hoogendam J et. al. (2007) Novel mutations in the parathyroid hormone (PTH)/PTH-related peptide receptor type 1 causing Blomstrand osteochondrodysplasia types I and II.

[^]
6.

Wysolmerski JJ et. al. (2001) Absence of functional type 1 parathyroid hormone (PTH)/PTH-related protein receptors in humans is associated with abnormal breast development and tooth impaction.

[^]
7.

Young ID et. al. (1993) A lethal skeletal dysplasia with generalised sclerosis and advanced skeletal maturation: Blomstrand chondrodysplasia?

[^]
8.

den Hollander NS et. al. (1997) First-trimester diagnosis of Blomstrand lethal osteochondrodysplasia.

[^]
9.

Oostra RJ et. al. (2000) Blomstrand osteochondrodysplasia: three novel cases and histological evidence for heterogeneity.

[^]