Syndrome de Baller-Gerold

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Syndrome de Baller-Gerold
Référence MIM 218600
Transmission Récessive
Chromosome 8q24.3
Gène RECQL4
Prévalence Inférieure à 1 sur 1 000 000
Maladie génétiquement liée Syndrome Rapadilano
Syndrome de Rothmund-Thomson
Diagnostic prénatal Possible
Liste des maladies génétiques à gène identifié
modifier 

Décrit en 1950[1] et en 1959[2], le syndrome de Baller-Gerold associe une fusion des sutures coronales du crâne (craniosynostose) aboutissant à une brachycéphalie avec des globes oculaires proéminents (proptosis) et un front saillant, des anomalies des membres supérieurs touchant le radius, une oligodactylie touchant principalement le pouce, un retard de croissance et un érythème télangiectasique ou poïkilodermie.

La mutation du gène RECQL4 responsable de cette pathologie est aussi responsable du syndrome Rapadilano et du syndrome de Rothmund-Thomson.

Sources

  • (en) Lionel Van Maldergem « Baller-Gerold Syndrome » In GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1993-2007 [1]

Notes et références

  1. ↑ (de) F. Baller « Radiusaplasie und Inzucht » Z Menschl Vererb Konstitutionsl. 1950;29:782-90.
  2. ↑ (de) M. Gerold « [Healing of a fracture in an unusual case of congenital anomaly of the upper extremities.] » Zentralbl Chir. 1959;84:831-4. PMID 13669699

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