NEW FORM OF POSTAXIAL ACROFACIAL DYSOSTOSIS

被引：5

作者：

ARENS, R

REICHMAN, B

KATZNELSON, MB

GOODMAN, RM

机构：

[1] CHAIM SHEBA MED CTR,DIV NEONATOL,IL-52621 TEL HASHOMER,ISRAEL

[2] TEL AVIV UNIV,SACKLER SCH MED,INST MED GENET,TEL AVIV,ISRAEL

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1991年 / 41卷 / 04期

关键词：

BIRTH DEFECTS; POSTAXIAL DEFICIENCY SYNDROMES; LIMB DEFICIENCY;

D O I：

10.1002/ajmg.1320410411

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on a 2-month-old Sephardic Jewish girl with bilateral and symmetrical deficiency of the fifth digital rays of all 4 limbs, combined with severe deformations and other malformations of the limbs. These findings were associated with orofacial malformations, as well as with visceral anomalies differing from those found in other postaxial deficiency syndromes. Parents were closely consanguineous. We assume this patient represents a new form of postaxial acrofacial dysostosis.

引用

页码：438 / 443

页数：6

共 17 条

[1] POSTAXIAL ACROFACIAL DYSOSTOSIS OR MILLER SYNDROME - A CASE-REPORT [J].