NEW CASE OF BARTSOCAS-PAPAS SYNDROME SURVIVING AT 20 MONTHS

被引：11

作者：

GIANNOTTI, A

DIGILIO, MC

STANDOLI, L

ZAMA, M

DALLAPICCOLA, B

机构：

[1] BAMBINO GESU PEDIAT HOSP,IST RIC & CARATTERE SCI,DEPT PLAST SURG,ROME,ITALY

[2] UNIV ROME 2,DEPT PUBL HLTH & CELL BIOL,ROME,ITALY

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1992年 / 42卷 / 05期

关键词：

POPLITEAL PTERYGIUM SYNDROME; ANKYLOBLEPHARON; FACIAL CLEFTS; AUTOSOMAL RECESSIVE INHERITANCE;

D O I：

10.1002/ajmg.1320420522

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on patient with Bartsocas-Papas syndrome surviving at age 20 months. Similar to 7 previously reported families, this patient is of Mediterranean ancestry, pointing to clustering of the responsible mutant gene in Southern Europe. In 3 of the 11 Bartsocas-Papas syndrome patients described so far, including the present case, the condition has not been neonatally lethal. This suggests that about one-fourth of these patients could survive. This information is important for genetic counseling.

引用

页码：733 / 735

页数：3

共 6 条

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