title: Chromosome 7p--syndrome: craniosynostosis with preservation of region 7p2.
abstract: Deletion of a portion of the short arm of chromosome 7 is associated with a recognizable phenotype which often includes craniosynostosis. Recent reports have suggested that craniosynostosis occurs only if there is a deletion involving band 7p21 or the segment distal to that band. We report on a boy who had an interstitial deletion of 7p, not involving band 7p21 or the segment distal to that band, who nevertheless had craniosynostosis. Thus, it appears that the determination of craniosynostosis in this syndrome is more complicated than has been suggested previously.
authors.affiliation: Department of Pediatrics, William Beaumont Hospital, Royal Oak, Michigan.
authors.forename: D J
authors.initials: DJ
authors.lastname: Aughton
authors.forename: S B
authors.initials: SB
authors.lastname: Cassidy
authors.forename: D A
authors.initials: DA
authors.lastname: Whiteman
authors.forename: J A
authors.initials: JA
authors.lastname: Delach
authors.forename: A E
authors.initials: AE
authors.lastname: Guttmacher
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002872:Chromosome Deletion; D002897:Chromosomes, Human, Pair 7; D003398:Craniosynostoses / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male