Tooth affected with dentinogenesis imperfecta are generally of which shape

 # Tooth affected with dentinogenesis imperfecta are generally of which shape?

A. Tulip

B. Conical

C. Shell

D. Ovoid

The correct answer is A. Tulip.

Aberration in chromosome 4 (loci4q21.3) is associated with Dentinogenesis imperfecta. It encodes dentin specific sialophospho protein (DSPP) gene. Deficiency of sialoprotein is also suggested as a causative factor for Dentinogenesis imperfecta. Tooth affected with dentinogenesis imperfecta are generally tulip shaped. 

Brittle bone syndrome is caused by:

 # Brittle bone syndrome is caused by:

A. Improper synthesis of procollagen 

B. Polymerisation of collagen 

C. Increase osteoclastic activity 

D Increase fibroblastic activity 

The correct answer is A. Improper synthesis of procollagen.

Osteogenesis imperfecta, also known as Brittle Bone Disease, or 'Lobstein syndrome' is disorder of congenital bone fragility caused by mutations in the genes that codify for type I procollagen. This deficiency arises from an amino acid substitution of glycine to bulkier amino acids in the collagen triple helix structure. If the body does not destroy the improper collagen, the relationship between the collagen fibrils and hydroxyapatite crystals to form bone is altered causing brittleness. The following 4 types of osteogenesis imperfecta have been reported. Type I -mild form, type II -extremely severe, type III -severe, type IV -undefined. These partly depend on the genetic subtype. Type I and IV are the most common forms of osteogenesis imperfecta. 

Goldenhar syndrome is:

 Goldenhar syndrome is:

A. Facial deformity, auricular abnormalities and vertebral deformity 

B. Facial deformity, auricular abnormalities, vertebral deformity and genital lesion 

C. Facial and auricular abnormalities only 

D. Auricular abnormalities only 

The correct answer is A. Facial deformity, auricular abnormalities and vertebral deformity.

Goldenhar syndrome or oculoauriculovertebral dysplasia is caused by abnormality in the vascular supply of the head. Hemifacial microsomia is second most common craniofacial anomaly, causing reduced growth and development of one half of the face. The mandible, maxilla, zygoma, external & middle ear, hyoid bone, parotid gland, 5th & 7th nerves, musculature and other soft tissues. When hemifacial microsomia is associated with vertebral abnormalities and epibulbar dermoids, it is known as Goldenhar syndrome. 

Cooley’s Anemia is also known as:

 # Cooley’s Anemia is also known as:

A. Sickle cell anemia

B. Alpha thalassemia

C. Beta thalassemia

D. Aplastic anemia

The correct answer is C. Beta Thalassemia.

Beta thalassaemia aka Thalassaemia major, Cooleys's anaemia: Beta-thalassaemia is inherited as an autosomal recessive pattern (homozygous). It is due to a mutation in the gene that causes either cause a total absence of beta-globin chain synthesis denoted as beta mutation or a reduced amount of beta-globin chain production denoted as beta mutation. Beta-thalassaemia major or Cooley's anaemia is the most severe form seen in individuals with a homozygous condition. These patients are severely anaemic and are transfusion dependent.