POSTAXIAL ACROFACIAL DYSOSTOSIS SYNDROME

被引：78

作者：

MILLER, M

FINEMAN, R

SMITH, DW

机构：

[1] UNIV WASHINGTON, SCH MED, DEPT PEDIAT, SEATTLE, WA 98195 USA

[2] UNIV WASHINGTON, CTR INHERITED DIS, SEATTLE, WA 98195 USA

[3] UNIV UTAH, DEPT PEDIAT, SALT LAKE CITY, UT 84112 USA

[4] UNIV WASHINGTON, SCH MED, DEPT MED, SEATTLE, WA 98195 USA

[5] UNIV WASHINGTON, CTR CHILD DEV & MENTAL RETARDAT, DYSMORPHOL UNIT, SEATTLE, WA 98195 USA

来源：

JOURNAL OF PEDIATRICS | 1979年 / 95卷 / 06期

关键词：

D O I：

10.1016/S0022-3476(79)80285-1

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Three patients with a postaxial acrofacial dysostosis syndrome are presented and the features of these and 3 other previously described examples are described. The facies can be strikingly similar to that of the Treacher-Collins syndrome. The limb deficiencies are postaxial, with absence or incomplete development of the 5th digital rays in both the upper and lower limbs. Accessory nipples were found in most of the patients. The nature of the limb deficiencies and the accessory nipples help to distinguish this condition from Nager acrofacial dysostosis. All of the children have normal intelligence and development; most show normal growth. All 6 cases occurred sporadically.

引用

页码：970 / 975

页数：6

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