Frank-ter Haar syndrome-additional findings?

被引：5

作者：

Kose, Taha Emre ^{[1
]}

Isler, Cemil ^{[2
]}

Senel, S. Neslihan ^{[1
]}

Sitilci, Tolga ^{[2
]}

Ozcan, Ilknur ^{[1
]}

Aksakalli, Nihan ^{[3
]}

机构：

[1] Istanbul Univ, Fac Dent, Oral & Maxillofacial Radiol Dept, Istanbul, Turkey

[2] Istanbul Univ, Fac Dent, Oral & Maxillofacial Surg Dept, Istanbul, Turkey

[3] Istanbul Univ, Inst Oncol, Dept Tumour Pathol, Istanbul, Turkey

来源：

DENTOMAXILLOFACIAL RADIOLOGY | 2016年 / 45卷 / 02期

关键词：

Frank-ter Haar syndrome; paranasal sinus; impacted teeth; ETHMOID SINUS HYPOPLASIA; MAXILLARY; APLASIA;

D O I：

10.1259/dmfr.20150119

中图分类号：

R78 [口腔科学];

学科分类号：

1003 ;

摘要：

Frank-ter Haar syndrome is a genetic disease that is transmitted by autosomal recessive pattern with characteristic features such as megalocornea or glaucoma, a prominent coccyx, heart defects, developmental delays, brachycephaly, a wide anterior fontanel, finger flexion deformities, full cheeks and micrognathia. Dentomaxillofacial features of this syndrome are not well documented in the literature. We present of a 21-year-old male with Frank-ter Haar syndrome and some features that may be linked with this syndrome not reported before in the literature.

引用

页数：4

共 12 条

[1] Congenital glaucoma as an ophthalmic manifestation of Frank-Ter Haar syndrome [J].

Aktas, Zeynep ;

Karaca, Emine Esra ;

Dogan, Nurcan ;

Cakmak, Tugba ;

Unlu, Metin ;

Tok, Levent ;

Hasanreisoglu, Murat .

INTERNATIONAL OPHTHALMOLOGY, 2014, 34 (02) :351-354

[2] Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure [J].

Bendon, Charlotte L. ;

Fenwick, Aimee L. ;

Hurst, Jane A. ;

Nuernberg, Gudrun ;

Nuernberg, Peter ;

Wall, Steven A. ;

Wilkie, Andrew O. M. ;

Johnson, David .

BMC MEDICAL GENETICS, 2012, 13

[3] Frank-ter Haar Syndrome Protein Tks4 Regulates Epidermal Growth Factor-dependent Cell Migration [J].

Boegel, Gabor ;

Gujdar, Annamaria ;

Geiszt, Miklos ;

Lanyi, Arpad ;

Fekete, Anna ;

Sipeki, Szabolcs ;

Downward, Julian ;

Buday, Laszlo .

JOURNAL OF BIOLOGICAL CHEMISTRY, 2012, 287 (37) :31321-31329

[4] Frank -Ter Haar Syndrome in a Newborn [J].

Femitha, P. ;

Joy, Rojo ;

Gane, Bahubali D. ;

Adhisivam, B. ;

Bhat, B. Vishnu .

INDIAN JOURNAL OF PEDIATRICS, 2012, 79 (08) :1091-1093

[5]

FRANK Y, 1973, J GENET HUM, V21, P67

[6] Combined Aplasia of Sphenoid, Frontal, and Maxillary Sinuses Accompanied by Ethmoid Sinus Hypoplasia [J].

Guven, Damla Guclu ;

Yilmaz, Suleyman ;

Ulus, Sila ;

Subasi, Bugra .

JOURNAL OF CRANIOFACIAL SURGERY, 2010, 21 (05) :1431-1433

[7] Combined sphenoid and frontal sinus aplasia accompanied by bilateral maxillary and ethmoid sinus hypoplasia [J].

Haktanir, A ;

Acar, M ;

Yucel, A ;

Aycicek, A ;

Degirmenci, B ;

Albayrak, R .

BRITISH JOURNAL OF RADIOLOGY, 2005, 78 (935) :1053-1056

[8]

Haznedaroglu E, 2014, J RARE DISORD, V2, P15

[9] Further delineation of Frank-ter Haar syndrome [J].

Maas, SM ;

Kayserili, H ;

Lam, J ;

Apak, MY ;

Hennekam, RCM .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2004, 131A (02) :127-133

[10] Common dental features and craniofacial development of three siblings with Ter Haar syndrome [J].

Parker K. ;

Pabla R. ;

Hay N. ;

Ayliffe P. .

European Archives of Paediatric Dentistry, 2014, 15 (1) :59-64

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