Interstitial deletion of the short arm of chromosome 7 without craniosynostosis

Abstract

Two female infants with apparently identical interstitial deletions at bands p13 to p15 of chromosome 7 are presented. They differ in phenotype. The first infant has failure to thrive, retardation in development, normal head circumference with ridged metopic suture, blepharophimosis, epicanthal folds, mild hypotelorism, small low-set ears, and a bifid right toe. The second infant has a normal weight, length, and head circumference, blepharophimosis, epicanthal folds, widely spaced nipples, enlarged clitoris, and very large hands and feet. The two patients' clinical and karyotypic findings are compared with previous reports of structural abnormalities of the short arm of chromosome 7. Of the three cases in the literature, craniosynostosis was present in the two patients with deletion of band 7p14. Our observations, thus, suggest that deletion of bands 7p13 to 7p15, in contrast to more distal deletions at band 7p2, is not associated with craniosynostosis.