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Changing phenotype in Floating-Harbor syndrome

✍ Scribed by Hersh, Joseph H.; Groom, Kathleen R.; Yen, Frank F.; Verdi, Gerald D.

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 26 KB
Volume: 76
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19980226)76:1<58::aid-ajmg10>3.0.co;2-o

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✦ Synopsis

We report on a girl with Floating-Harbor syndrome, trigonocephaly due to metopic suture synostosis, preauricular pit, hypoplastic thumb, subluxated radial head, and Sprengel deformity. A review suggests that trigonocephaly may be an important craniofacial manifestation in this syndrome that is recognizable in infancy. With time, this finding appears to become less noticeable, and the face develops a triangular shape, accentuated by a broad and bulbous nose. Am. J.

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