Changing phenotype in Floating-Harbor syndrome.

Abstract

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.

• Authors: J H Hersh, K R Groom, F F Yen, G D Verdi
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 76 Issue 1 Pg. 58-61 (Feb 26 1998) ISSN: 0148-7299 [Print] United States
• PMID: 9508066 (Publication Type: Case Reports, Journal Article, Review)

Topics

• Abnormalities, Multiple (genetics)
• Age Factors
• Child
• Clavicle (abnormalities)
• Craniofacial Abnormalities (genetics)
• Female
• Growth Disorders (genetics)
• Humans
• Intellectual Disability (genetics)
• Phenotype
• Speech Disorders (genetics)
• Syndrome