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Key words: Genetic counseling, campomelic dysplasia, SOX9 mutation
Campomelic dysplasia (CD, OMIM #114290) which is inherited autosomal dominantly was described by Caffey (1) in1947 for the first time in a subject who showed angular bending in the extremities, dimples on the skin on these bones and shortness in the long bones.
The incidence of campomelic dysplasia is the same in both sexes.
Most patients with campomelic dysplasia are born dead or lost due to respiratory distress in a few weeks after delivery.
Cummings syndrome is an autosomal recessive form of campomelic dysplasia that associate to skeletal malformations other anomalies like cystic disease (with renal, hepatic and pancreatic localization) cervical lymphocele or defects in laterality, manifested by polyasplenia complex, severe congenital heart disease and dextrocardia [11].
The presence of balanced translocations usually is associated with mild form of campomelic dysplasia, called acampomelic campomelic dysplasia [19-21].
The presence of this complex regulatory system explains the high variability of disease, characterized by campomelic dysplasia or acampomelic campomelic dysplasia with or without sex-reversal in 46,XY individuals [22, 23].
Campomelic dysplasia: a rare cause of congenital spinal deformity.
Key words: Campomelic dysplasia; Camptomelic dysplasia; Congenital malformations; Skeletal dysplasia; Sex reversal; ECLAMC.
The phenotype of survivors of campomelic dysplasia. J Med Genet 2002; 39: 597-602.