Genetics of Cleft Palate and Velopharyngeal Insufficiency

被引：20

作者：

Sweeney, Walter M. ^{[1
]}

Lanier, Steve T. ^{[1
]}

Purnell, Chad A. ^{[1
]}

Gosain, Arun K. ^{[1
]}

机构：

[1] Northwestern Univ, Ann & Robert H Lurie Childrens Hosp, Div Plast Surg, Chicago, IL 60611 USA

来源：

JOURNAL OF PEDIATRIC GENETICS | 2015年 / 4卷 / 01期

关键词：

cleft palate; velopharyngeal insufficiency; palate anatomy; palate physiology; velopharynx; genetics;

D O I：

10.1055/s-0035-1554978

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Velopharyngeal insufficiency (VPI) can occur in the setting of an unrepaired or repaired cleft lip and palate. The rate of VPI has been documented as high as 33% in some studies with higher rates of recurrences following surgery associated with genetic syndromes such as 22q11.2 deletions. The primary cause of VPI in these groups is still identified as the anatomic abnormalities of the velum. In this review, the anatomy and physiology of the velum are discussed along with genetic mutations associated with VPI.

引用

页码：9 / 16

页数：8

共 58 条

[1] Variations in the tensor veli palatini muscle with special reference to its origin and insertion [J].

Abe, M ;

Murakami, G ;

Noguchi, M ;

Kitamura, S ;

Shimada, K ;

Kohama, GI .

CLEFT PALATE-CRANIOFACIAL JOURNAL, 2004, 41 (05) :474-484

[2]

Barsoumian R, 1998, CLEFT PALATE-CRAN J, V35, P101, DOI 10.1597/1545-1569(1998)035<0101:AASOTT>2.3.CO

[3]

[4] Variation in IRF6 contributes to nonsyndromic cleft lip and palate [J].

Blanton, SH ;

Cortez, A ;

Stal, S ;

Mulliken, JB ;

Finnell, RH ;

Hecht, JT .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2005, 137A (03) :259-262

[5]

BLOCKSMA R, 1963, Plast Reconstr Surg, V31, P268, DOI 10.1097/00006534-196303000-00006

[6] LEVATOR PALATI AND PALATAL DIMPLES - THEIR ANATOMY, RELATIONSHIP AND CLINICAL-SIGNIFICANCE [J].

BOORMAN, JG ;

SOMMERLAD, BC .

BRITISH JOURNAL OF PLASTIC SURGERY, 1985, 38 (03) :326-332

[7] Upper airway asymmetry in velo-cardio-facial syndrome [J].

Chegar, Burke E. ;

Tatum, Sherard A., III ;

Marrinan, Eileen ;

Shprintzen, Robert J. .

INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, 2006, 70 (08) :1375-1381

[8] Chordin Is a Modifier of Tbx1 for the Craniofacial Malformations of 22q11 Deletion Syndrome Phenotypes in Mouse [J].

Choi, Murim ;

Klingensmith, John .

PLOS GENETICS, 2009, 5 (02)

[9] VELOPHARYNGEAL ANATOMY [J].

DICKSON, DR ;

DICKSON, WM .

JOURNAL OF SPEECH AND HEARING RESEARCH, 1972, 15 (02) :372-&

[10] DELETIONS AND MICRODELETIONS OF 22Q11.2 IN VELO-CARDIO-FACIAL SYNDROME [J].

DRISCOLL, DA ;

SPINNER, NB ;

BUDARF, ML ;

MCDONALDMCGINN, DM ;

ZACKAI, EH ;

GOLDBERG, RB ;

SHPRINTZEN, RJ ;

SAAL, HM ;

ZONANA, J ;

JONES, MC ;

MASCARELLO, JT ;

EMANUEL, BS .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1992, 44 (02) :261-268

← 1 2 3 4 5 6 →