campomelic dysplasia

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campomelic dysplasia

A rare, often lethal, autosomal dominant osteochondrodysplasia (OMIM:114290), characterised by male-to-female autosomal sex reversal in two-thirds of affected genotypic males. Bone changes seen in newborns include congenital bowing and angulation of long bones, unusually small scapulae, deformed pelvis and spine and a missing pair of ribs. Craniofacial defects, including cleft palate, micrognatia, flat face and hypertelorism, are common. Ear defects affect the cochlea, malleus incus, stapes and tympanum. Most infants die shortly after birth due to respiratory distress secondary to hypoplasia of tracheobronchial cartilage and small thoracic cage.

Molecular pathology
Defects of SOX9 cause campomelic dysplasia.
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The mean age of JAK2 V617F positive CMPD patients was 53 [+ or -] 11 yr (range 28-73 yr) and that of the wild type was 44 [+ or -] 17.
Our findings did not show any association between the presence of JAK2 V617F mutation and risk of thrombosis or haemorrhage in CMPD patients since these events occurred in very few cases and this is consistent with the results from other studies (12,13).
It is reiterated that as in the West, detection of this mutation may have a significant role in diagnosing BCR-ABL negative CMPD and in identification of subsets who would respond to JAK2 inhibitor therapy.
Its primary source of income is from the sale of merchandise at its store located in the police headquarters basement and from a percentage of sales of vending machine snacks and drinks located in every CMPD facility.