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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References in periodicals archive ?
A clinical and genetic study of campomelic dysplasia. J Med Genet 1995; 32: 415-20.
Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations.
The treatment of progressive kyphoscoliosis in campomelic dysplasia. Spine 1997; 22: 1330-7.
Clinical, genetics and bioinformatics characterization of a campomelic dysplasia case report.
Campomelic Dysplasia Translocation Breakpoints are scattered over 1 Mb proximal to SOX9: Evidence for an Extended Control Region.
Phenotype of five cases of prenatally diagnosed campomelic dysplasia harboring novel mutations of the SOX9 gene.
SOX9 p.Lys106Glu mutation causes acampomelic campomelic dysplasia: Prenatal and postnatal clinical findings.
Clinical utility gene card for: campomelic dysplasia, Eur J Hum Genet 2013; 21.
Campomelic Dysplasia. J Pediatr Orthop 2014; 23(5):485-488.
Position effects due to chromosome breakpoints trat map ~00Kb upstream and ~1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia. Am J Hum Genet 2005; 76(4):652-662.