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Journal of Child Neurology
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Neurodevelopmental and Behavioral Abnormalities Associated With Deletion of Chromosome 9p

Gideon Eshel, MD

Pediatric Division

Eli Lahat, MD

Pediatric Neurology Unit

Orit Reish, MD

Pediatric Genetic Institute

Joseph Barr, MD

Pediatric Division Assaf Harofeh Medical Center Zerifin, Israel

We report a child with craniosynostosis, partial absence of the corpus callosum, developmental delay, precocious puberty, and deletion of chromosome 9(p 12p 13,3). A review of the literature did not reveal any previous combination of the same kind. Craniosynostosis and partial absence of the corpus callosum, separately or in conjunction, may be part of the spectrum of malformations in the chromosome 9p deletion syndrome, and its presence, in combination with other known features, should prompt a search for this particular deletion as part of the differential diagnosis. (J Child Neurol 2002;17:50-51).

Journal of Child Neurology, Vol. 17, No. 1, 50-51 (2002)
DOI: 10.1177/088307380201700113
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G. Vinci, S. Chantot-Bastaraud, B. El Houate, S. Lortat-Jacob, R. Brauner, and K. McElreavey
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[Abstract] [Full Text] [PDF]