Changing phenotype in Floating-Harbor syndrome

被引：0

作者：

Hersh, JH

Groom, KR

Yen, FF

Verdi, GD

机构：

[1] Univ Louisville, Child Evaluat Ctr, Dept Pediat, Louisville, KY 40202 USA

[2] Univ Louisville, Dept Surg, Louisville, KY 40292 USA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1998年 / 76卷 / 01期

关键词：

Floating-Harbor syndrome; trigonocephaly; short stature; delayed bone age; bulbous nose; hypernasal speech; speech delay; metopic synotosis; pseudoarthrosis of clavicle; celiac disease; mental retardation; facial anomalies;

D O I：

10.1002/(SICI)1096-8628(19980226)76:1<58::AID-AJMG10>3.3.CO;2-Y

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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. (C) 1998 Wiley-Liss, Inc.

引用

页码：58 / 61

页数：4

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