گزارش یک مورد دیسپلازی کامپتوملیک

Çamptomelic dysplasia is a fatal infantile dysplasia characterized by lower limb bowing and mesomelic dwarfism. Most of this skeletal dysplasia occur through spontaneous mutation, but recessive autosomic recession is also likely. Prenatal diagnosis is considered with ultrasonography and amniocentesis. Postnatal diagnosis is characterized by mesomelic dwarfism with limb bowing, pulmonary hypoplasia, larynyotracheomalacia, cleft palat, hermaphrodism, fibula, pelvis and scapula hypoplasia. Relationship between the exposure to ocp during pregnancy and the disease is also reported. The gene responsible for camptomelic dysplasia, sox9, has recently been mapped to choromosome 17. Ïndentical mutations of sox9 may produce different gonadal morphologies and genital phenotypes. Majority of the involved infants usually die within the first year of life because of respiratory failure, nutritional problems and generalized hypotonia. Screening pregnant women who are at risk of camptomelia in fetus using ultrasonogtaphy is recommended.