title: Neurodevelopmental and behavioral abnormalities associated with deletion of chromosome 9p.
abstract: We report a child with craniosynostosis, partial absence of the corpus callosum, developmental delay, precocious puberty, and deletion of chromosome 9(p12p13,3). 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.
authors.affiliation: Pediatric Division, Assaf Harofeh Medical Center, Zerifin, Israel. fredricag@asaf.health.gov.il
authors.forename: Gideon
authors.initials: G
authors.lastname: Eshel
authors.forename: Eli
authors.initials: E
authors.lastname: Lahat
authors.forename: Orit
authors.initials: O
authors.lastname: Reish
authors.forename: Joseph
authors.initials: J
authors.lastname: Barr
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D061085:Agenesis of Corpus Callosum; D001921:Brain / Q000473:pathology; D002648:Child; D002653:Child Behavior Disorders / Q000175:diagnosis / Q000235:genetics*; D002872:Chromosome Deletion; D002899:Chromosomes, Human, Pair 9; D003337:Corpus Callosum / Q000473:pathology; D003398:Craniosynostoses / Q000175:diagnosis / Q000235:genetics*; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics*; D004200:Diseases in Twins; D005260:Female; D006801:Humans