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.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
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"Triple negative" patients tend to show inferior outcome compared to [JAK2.sup.mut]/[CALR.sup.mut] and [MPL.sup.mut] CMPD patients.
It is concluded that in CMPD, Chronic Myeloid Leukemia is commonest and Essential Thrombocythemia was least common.
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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 -] 17.3 yr (range 15-83 yr) (P<0.05).
The diagnosis of BCR/ABL-negative chronic myeloproliferative diseases (CMPD): a comprehensive approach based on morphology, cytogenetics, and molecular markers.
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(17.) See the Canadian Moving Picture Digest (hereafter cited as CMPD), 1 May 1940, p.
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Finally, two other dummy variables namely, cellular mobile phone analogue, CMPA, and cellular mobile phone digital, CMPD, were constructed representing analogue and digital technology competition, respectively.
211 Kock), cmpd. |Delta~|Iota~|Alpha~-|Tau~|Tau~|Alpha~|Omega~.(42) The telic Aktionsart of 'strike, beat (through)' suggests a fundamental root aorist for the protolanguage: 3sg.