MCKUSICK-KAUFMAN SYNDROME - THE DIAGNOSTIC CHALLENGE OF ABDOMINAL DISTENSION IN THE NEONATAL-PERIOD

被引：19

作者：

SCHAAP, C

DEDIESMULDERS, CEM

KUIJTEN, RH

FRYNS, JP

机构：

[1] ACAD HOSP MAASTRICHT,DEPT CLIN GENET,POB 1475,6201 BL MAASTRICHT,NETHERLANDS

[2] UNIV HOSP LEUVEN,CTR HUMAN GENET,LOUVAIN,BELGIUM

[3] ACAD HOSP MAASTRICHT,DEPT PAEDIAT,6201 BL MAASTRICHT,NETHERLANDS

来源：

EUROPEAN JOURNAL OF PEDIATRICS | 1992年 / 151卷 / 08期

关键词：

MCKUSICK-KAUFMAN SYNDROME; HYDROMETROCOLPOS; ABDOMINAL DISTENSION;

D O I：

10.1007/BF01957727

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

We report a newborn girl with McKusick-Kaufman syndrome who presented at birth with severe life-threatening abdominal distension due to hydrometrocolpos. In children with polydactyly and cystic masses in the lower abdomen should hydrometrocolpos be especially considered. Ultrasonography is of great value in the correct assignment of lower abdominal tumours, but should be completed by vagino(cysto)scopy when hydrometrocolpos is suspected.

引用

页码：583 / 585

页数：3

共 13 条

[1]

CANTANI A, 1987, ANN GENET-PARIS, V30, P70

[2] FURTHER DELINEATION OF THE MCKUSICK-KAUFMAN HYDROMETROCOLPOS-POLYDACTYLY SYNDROME [J].

CHITAYAT, D ;

HAHM, SYE ;

MARION, RW ;

SACHS, GS ;

GOLDMAN, D ;

HUTCHEON, RG ;

WEISS, R ;

CHO, S ;

NITOWSKY, HM .

AMERICAN JOURNAL OF DISEASES OF CHILDREN, 1987, 141 (10) :1133-1136

[3] ABDOMINAL DISTENSION IN KAUFMAN-MCKUSICK SYNDROME [J].

FARRELL, SA ;

DAVIDSON, RG ;

DEMARIA, JE ;

GRANT, L ;

TOI, A .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1986, 25 (02) :205-210

[4] HYDROMETROCOLPOS-POLYDACTYLY SYNDROME IN A MACERATED FEMALE FETUS [J].

HASPESLAGH, M ;

FRYNS, JP ;

VANDENBERGHE, K ;

GODDEERIS, P ;

LAUWERYNS, J ;

VANDENBERGHE, H .

EUROPEAN JOURNAL OF PEDIATRICS, 1981, 136 (03) :307-309

[5]

KAUFMAN RL, 1971, BIRTH DEFECTS, V8, P85

[6]

MCKUSICK VA, 1964, JAMA-J AM MED ASSOC, V189, P813

[7]

MOERMAN P, 1984, PEDIATRICS, V73, P470

[8] HYDROMETROCOLPOS IN NEONATE DUE TO DISTAL VAGINAL ATRESIA [J].

NGUYEN, L ;

YOUSSEF, S ;

GUTTMAN, FM ;

AHLGREN, LS ;

SCHLECHTER, R .

JOURNAL OF PEDIATRIC SURGERY, 1984, 19 (05) :510-514

[9] ABDOMINAL DISTENSION AS THE 1ST ECHOGRAPHIC SIGN OF HYDROMETROCOLPOS IN A FEMALE FETUS [J].

PETIT, P ;

THOMAS, D ;

MOERMAN, P ;

FRYNS, JP .

EUROPEAN JOURNAL OF OBSTETRICS GYNECOLOGY AND REPRODUCTIVE BIOLOGY, 1991, 39 (02) :99-101

[10] HYDROPS-FETALIS IN THE MCKUSICK-KAUFMAN SYNDROME - A CASE-REPORT [J].

ROSEN, RS ;

BOCIAN, ME .

AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY, 1991, 165 (01) :102-103

← 1 2 →