Syndrome To ball-Gerold
Described in 1950 and 1959, the syndrome To ball-Gerold associates a fusion of the joinings coronales cranium (Craniosynostose) succeed with a brachycephaly with prominent ocular spheres (proptosis) and a projecting face; anomalies of the upper limbs concerning the Radius; a oligodactylie concerning mainly the inch; a delay of growth and a erythema telangiectasic or poikilodermy.
The change of the gene RECQL4 responsible for this pathology is also responsible for the Syndrome Rapadilano and the Syndrome of Rothmund-Thomson.
Sources
- Lionel Van Maldergem, To ball-Gerold Syndrome In GeneTests: Medical Genetics Information Resource (database online). Copyright, University off Washington, Seattle. 1993-2007 ===Références===
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