NF1 and overgrowth syndrome resembling Weaver syndrome in 3 sporadic patients. A. Moncla1, C. Missirian2, O. Pincemaille3, J. Mancini2, M.O. Livet2, P. Malzac1, N. Philip1. 1) Department of Medical Genetics, Hopital d'Enfants de la Timone, Marseille, France; 2) Department of Neuropediatrics, Hopital d'Enfants de la Timone, Marseille, France; 3) Department of Pediatrics, Bastia, France.
We report three unrelated patients presenting the combination of an overgrowth syndrome resembling Weaver syndrome and NF1. This association has been described by Hennekam et al ( J Med Genet, 1998)in two related patients. The three patients were referred for unexplained mental retardation with behavioral problems. All of them exhibited a remarkable coarse face with hypertelorism, epicanthic folds, large ears, fetal finger pads and hyperextensible fingers. Height and head circumference were above the 97th centile and osseous maturation was advanced in all. All presented more than 5 cafe-au-lait spots. One of them developed precocious puberty related to intracranial glioma. Moderate psychomotor and language delay were present with a particular behavioral phenotype. All three patients had a hoarse and low-pitched voice. RHG-banded karyotypes were normal. Molecular analyses of the 17q11.2 region are in progress to test the hypothesis of a deletion encompassing the NF1 gene.