Wiedemann-Rautenstrauch neonatal progeroid syndrome: Report of three new patients

被引：36

作者：

Arboleda, H

Quintero, L

Yunis, E

机构：

[1] Institute de Genética, Universidad Nacional de Colombia, Santafé de Bogota

来源：

JOURNAL OF MEDICAL GENETICS | 1997年 / 34卷 / 05期

关键词：

neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome; autosomal recessive disorder; bone maturation-lipid-hormone;

D O I：

10.1136/jmg.34.5.433

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Wiedemann-Rautenstrauch (WR) syndrome is known as a neonatal progeroid syndrome, with only few published case reports. We describe three additional patients, two of them sibs, showing the clinical features of WR syndrome. Skeletal abnormalities are reported and assays of hormones and lipids are presented in one patient. Disturbance in bone maturation and lipid and hormone metabolism appear to be involved in this neonatal progeroid syndrome.

引用

收藏

页码：433 / 437

页数：5

相关论文

共 12 条

[1]

BITOUN P, 1995, CLIN DYSMORPHOL, V4, P239

[2] 2 SIBS WITH WIEDEMANN-RAUTENSTRAUCH SYNDROME - POSSIBILITIES OF PRENATAL-DIAGNOSIS BY ULTRASOUND [J].

CASTINEYRA, G ;

PANAL, M ;

PRESAS, HL ;

GOLDSCHMIDT, E ;

SANCHEZ, JM .

JOURNAL OF MEDICAL GENETICS, 1992, 29 (06) :434-436

[3] THE WIEDEMANN-RAUTENSTRAUCH OR NEONATAL PROGEROID SYNDROME - REPORT OF A PATIENT WITH CONSANGUINEOUS PARENTS [J].

DEVOS, EA ;

LEROY, JG ;

FRIJNS, JP ;

VANDENBERGHE, H .

EUROPEAN JOURNAL OF PEDIATRICS, 1981, 136 (03) :245-248

[4]

LEROY JG, 1994, DYSMORPHOLOGY GENETI, P166

[5] THE WIEDEMANN-RAUTENSTRAUCH OR NEONATAL PROGEROID SYNDROME NEUROPATHOLOGICAL STUDY OF A CASE [J].

MARTIN, JJ ;

CEUTERICK, CM ;

LEROY, JG ;

DEVOS, EA ;

ROELENS, JG .

NEUROPEDIATRICS, 1984, 15 (01) :43-48

[6] RADIOGRAPHIC FINDINGS IN WIEDEMANN-RAUTENSTRAUCH SYNDROME [J].

OBREGON, MG ;

BERGAMI, GL ;

GIANNOTTI, A ;

DIGILIO, MC ;

VIRGILI, Q ;

GUADAGNI, AM ;

POMPEI, E ;

DALLAPICCOLA, B .

PEDIATRIC RADIOLOGY, 1992, 22 (06) :474-475

[7] NEONATAL PROGEROID SYNDROME - REPORT OF A JAPANESE INFANT [J].

OHASHI, H ;

EGUCHI, T ;

KAJII, T .

JAPANESE JOURNAL OF HUMAN GENETICS, 1987, 32 (03) :253-256

[8] PROGERIA - CELL-CULTURE STUDY AND CLINICAL REPORT OF FAMILIAL INCIDENCE [J].

RAUTENSTRAUCH, T ;

SNIGULA, F ;

KRIEG, T ;

GAY, S ;

MULLER, PK .

EUROPEAN JOURNAL OF PEDIATRICS, 1977, 124 (02) :101-111

[9] NEONATAL PROGEROID SYNDROME (WIEDEMANN-RAUTENSTRAUCH) - A FOLLOW-UP-STUDY [J].

RAUTENSTRAUCH, T ;

SNIGULA, F ;

WIEDEMANN, HR .

KLINISCHE PADIATRIE, 1994, 206 (06) :440-443

[10] THE NEONATAL PSEUDO-HYDROCEPHALIC PROGEROID SYNDROME (WIEDEMANN-RAUTENSTRAUCH) - REPORT OF A NEW PATIENT AND REVIEW OF THE LITERATURE [J].

RUDIN, C ;

THOMMEN, L ;

FLIEGEL, C ;

STEINMANN, B ;

BUHLER, U .

EUROPEAN JOURNAL OF PEDIATRICS, 1988, 147 (04) :433-438