Confirmation of Kapur-Toriello syndrome in an Italian patient

Authors
Zelante, L Candela, MA Savoia, A Gasparini, P
Citation
L. Zelante et al., Confirmation of Kapur-Toriello syndrome in an Italian patient, CLIN DYSMOR, 8(2), 1999, pp. 151-153
Citations number
2
Categorie Soggetti
Research/Laboratory Medicine & Medical Tecnology
Journal title
CLINICAL DYSMORPHOLOGY
ISSN journal
09628827 → ACNP
Volume
8
Issue
2
Year of publication
1999
Pages
151 - 153
Database
ISI
SICI code
0962-8827(199904)8:2<151:COKSIA>2.0.ZU;2-1
Abstract
We report a patient showing the phenotype described by Kapur and Toriello ( Am J Med Genet 41:423-425, 1991) in two sibs. Clinical manifestations inclu de severe mental retardation, cleft lip/palate, and distinctive nose, eye, and intestinal defects. This additional case contributes to a better defini tion of the apparently new MCA/MR syndrome proposed by Kapur and Toriello. Clin Dysmorphol 8: 151-153 (C) 1999 Lippincott Williams & Wilkins.