AGENESIS OR HYPOPLASIA OF MAJOR SALIVARY AND LACRIMAL GLANDS

被引：22

作者：

MILUNSKY, JM

LEE, VW

SIEGEL, BS

MILUNSKY, A

机构：

[1] BOSTON UNIV,SCH MED,CTR HUMAN GENET,80 E CONCORD ST,BOSTON,MA 02118

[2] BOSTON UNIV,SCH MED,DEPT PEDIAT,BOSTON,MA 02118

[3] BOSTON UNIV,SCH MED,DEPT RADIOL,BOSTON,MA 02118

[4] BOSTON CITY HOSP,BOSTON,MA 02118

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1990年 / 37卷 / 03期

关键词：

autosomal dominant disorder; hypoplasia; lacrimal glands; parotid gland;

D O I：

10.1002/ajmg.1320370316

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We described a young man with almost total absence of the parotid glands, hypoplasia of both lacrimal glands, marked hypofunction of both submandibular glands, and left nasolacrimal duct atresia. Lack of tearing, severe dental caries, and conjunctival scarring following chronic xerophthalmia and conjunctivitis serve to alert pediatricians to this autosomal dominant disorder with considerable variation in expressivity.

引用

页码：371 / 374

页数：4

共 17 条

[1]

BLACKMAR FB, 1925, AM J OPHTHALMOL, V8, P139

[2] THE VALUE, LIMITATIONS, AND APPLICATIONS OF NUCLEAR DACRYOCYSTOGRAPHY [J].

BROWN, M ;

ELGAMMAL, TAM ;

LUXENBERG, MN ;

EUBIG, C .

SEMINARS IN NUCLEAR MEDICINE, 1981, 11 (04) :250-257

[3]

BURNETT SM, 1884, ARCH OPHTHALMOL-CHIC, V13, P53

[4] CONGENITAL ABSENCE OF LACRIMAL PUNCTA AND OF ALL MAJOR SALIVARY-GLANDS - CASE-REPORT AND LITERATURE-REVIEW [J].

HIGASHINO, H ;

HORII, T ;

OHKUSA, Y ;

OHKUMA, H ;

INO, C ;

NAKAZAWA, M ;

IZUMI, H ;

KOBAYASHI, Y .

CLINICAL PEDIATRICS, 1987, 26 (07) :366-368

[5]

LUMBROSO B D, 1960, Acta Genet Med Gemellol (Roma), V9, P290

[6]

MILUNSKY A, 1983, PEDIATR RES, V17, pA300

[7]

MONDINO BJ, 1976, ARCH OPHTHALMOL-CHIC, V94, P1478

[8]

RAMSEY WR, 1924, AM J DIS CHILD, V28, P391

[9]

Ramsey WR., 1924, AM J DIS CHILD, V28, P440

[10] EXTRAPULMONARY LOCALIZATION OF GALLIUM IN SARCOIDOSIS [J].

ROHATGI, PK ;

SINGH, R ;

VIERAS, F .

CLINICAL NUCLEAR MEDICINE, 1987, 12 (01) :9-16

← 1 2 →