HYPOMANDIBULAR FACIOCRANIAL DYSOSTOSIS - REPORT OF AN AFFECTED SIB AND FOLLOW-UP

被引：9

作者：

SCHIMKE, RN ^{[1
]}

CLAFLIN, KS ^{[1
]}

SEGUIN, JH ^{[1
]}

BENNETT, TL ^{[1
]}

FINLEY, BE ^{[1
]}

LEVITCH, LM ^{[1
]}

NEWCOMB, WM ^{[1
]}

机构：

[1] UNIV KANSAS,MED CTR,SCH MED,DEPT OBSTET & GYNECOL,KANSAS CITY,KS 66103

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1991年 / 41卷 / 01期

关键词：

CRANIOSYNOSTOSIS; GINGIVAL FUSION; HYPOGLOSSIA; TRACHEAL DYSGENESIS; AUTOSOMAL RECESSIVE INHERITANCE;

D O I：

10.1002/ajmg.1320410125

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Hypomandibular faciocranial dysostosis is a condition heretofore described only in a single case. We report the birth of an affected sister along with follow-up information on the initial surviving patient. While a primary error in neural crest development was postulated in this syndrome, subsequently discovered anatomical abnormalities suggest a more complex pathogenesis.

引用

页码：102 / 104

页数：3