CHANGING PHENOTYPE IN FLOATING-HARBOR SYNDROME

Citation
Jh. Hersh et al., CHANGING PHENOTYPE IN FLOATING-HARBOR SYNDROME, American journal of medical genetics, 76(1), 1998, pp. 58-61
Citations number
11
Categorie Soggetti
Genetics & Heredity
ISSN journal
01487299
Volume
76
Issue
1
Year of publication
1998
Pages
58 - 61
Database
ISI
SICI code
0148-7299(1998)76:1<58:CPIFS>2.0.ZU;2-B
Abstract
We report on a girl with Floating-Harbor syndrome, trigonocephaly due to metopic suture synostosis, preauricular pit, hypoplastic thumb, sub luxated radial head, and Sprengel deformity. A review suggests that tr igonocephaly may be an important craniofacial manifestation in this sy ndrome that is recognizable in infancy. With time, this finding appear s to become less noticeable, and the face develops a triangular shape, accentuated by a broad and bulbous nose. (C) 1998 Wiley-Liss, Inc.