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Neurogenic Arthrogryposis Multiplex Congenita and Velopharyngeal Incompetence Associated With Chromosome 22q11.2 Deletion

Departamento de Pediatría Servicio de Neuropediatría, pdcastro{at}usc.es

José María Iglesias-Meleiro, MD

Departamento de Pediatría Servicio de Neuropediatría

Manuel Oscar Blanco-Barca, MD

Departamento de Pediatría Servicio de Neuropediatría

Mónica Grande-Seijo, MD

Servicio de Neurofisiología Clínica

Francisco Barros-Angueira, PhD

Servicio de Medicina Molecular Hospital Clínico Universitario

Jesús Eirís-Puñal, MD

Departamento de Pediatría Servicio de Neuropediatría Universidad de Santiago de Compostela Santiago de Compostela, Spain

We report a case of neurogenic arthrogryposis multiplex congenita and velopharyngeal incompetence in association with a chromosome 22q11.2 deletion in a 5-month-old boy, the only child of a nonconsanguineous couple without relevant antecedents. Specifically, polymerase chain reaction amplification of microsatellite markers revealed a noninherited microdeletion in position D22S306. This phenotype has not been reported previously in association with chromosome 22q11.2 deletions, and these findings raise the possibility that at least some cases of neurogenic arthrogryposis multiplex congenita might be due to genetic defects of this type. (J Child Neurol 2005;20:76—78).

Journal of Child Neurology, Vol. 20, No. 1, 76-78 (2005)
DOI: 10.1177/08830738050200011301


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