Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Chondrodysplasia of Blomstrand type

Chondrodysplasia of Blomstrand type is a severe autosomal recessiv disorder caused by inactivating mutations of the PTHR1 gene. Patients die soon after birth and exhibit severe skeletal abnormalities.

Systematic

Bone dysplasia
Achondroplasia
Acrocapitofemoral dysplasia
Antley-Bixler syndrome 1
Antley-Bixler syndrome 2
Apert syndrome
Chondrodysplasia of Blomstrand type
PTH1R
Chondrodysplasia, Grebe type
Crouzon syndrome
Eiken syndrome
Failure of tooth eruption
McCune-Albright syndrom
Metaphyseal chondrodysplasia of Murk Jansen type
Muenke syndrome
Osteofibrous dysplasia
Osteopathia striata with cranial sclerosis
Schimke Immunoosseous dysplasia
Thanatophoric dysplasia 1
Thanatophoric dysplasia 2

References:

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.

[^]
Update: Sept. 26, 2018