Cranial Dysplasy cleido

The cranial dysplasy cleido is a constitutional disease of the bone associating a delay of the closing of the Fontanelle S of cranium, Clavicule S and anomalies of teeth. The demonstrations of this disease are very variable within the same family.

The most obvious characteristic of this disease is the absence of closing of large fontanelle which thus remains open during the life of the person. The other signs are a hypoplasy of the lower half of the face; anomalies of teeth including/understanding a delay of final teeth, an absence of the disappearance of primary education teeth involving of the disorders of dental occlusion; a hypoplasy or aplasia of the clavicles involving a reduction of the distance between the two acromions with possibilté to make touch the two shoulders on the level of the line of centers of the individual and the anomalies of the hands with type of bradydactylie or broad inches.

The other signs of the disease are a lower size and orthopedic anomalies like the flat feet, a genu valgum and a scoliosis. Infections of the higher air routes and ears are usual. An average backwardness is frequent.

This disease results from a change of the factor of transcription CBFA1 (Core Binding Factor A1) of the cells bordering of the bone. This change leads to the opening of the frontal and parietal bones…

Sources

Roberto Mendoza-Londono, Brendan Lee, Cleidocranial Dysplasia In: GeneReviews At GeneTests: Medical Genetics Information Resource (database online). Copyright, University off Washington, Seattle. 1997-2005.

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