LIMB PELVIS-HYPOPLASIA APLASIA SYNDROME (AL-AWADI RAAS-ROTHSCHILD SYNDROME) - REPORT OF 2 ITALIAN SIBS AND FURTHER CONFIRMATION OF AUTOSOMAL RECESSIVE INHERITANCE

被引：23

作者：

CAMERA, G

FERRAIOLO, G

LEO, D

SPAZIALE, A

POZZOLO, S

机构：

[1] OSPED VILLA MALTA,I-84087 SARNO,ITALY

[2] ASM,I-20129 MILAN,ITALY

来源：

JOURNAL OF MEDICAL GENETICS | 1993年 / 30卷 / 01期

关键词：

D O I：

10.1136/jmg.30.1.65

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A third family with two Italian neonates affected with limb/pelvis-hypoplasia/aplasia syndrome is reported. The disorder shows autosomal recessive inheritance.

引用

页码：65 / 69

页数：5

共 5 条

[1]

Aitken GT, 1969, PROXIMAL FEMORAL FOC, P1

[2] PROFOUND LIMB DEFICIENCY, THORACIC DYSTROPHY, UNUSUAL FACIES, AND NORMAL INTELLIGENCE - A NEW SYNDROME [J].

ALAWADI, SA ;

TEEBI, AS ;

FARAG, TI ;

NAGUIB, KM ;

ELKHALIFA, MY .

JOURNAL OF MEDICAL GENETICS, 1985, 22 (01) :36-38

[3] FEMORAL HYPOPLASIA - UNUSUAL FACIES SYNDROME [J].

DAENTL, DL ;

SMITH, DW ;

SCOTT, CI ;

HALL, BD ;

GOODING, CA .

JOURNAL OF PEDIATRICS, 1975, 86 (01) :107-111

[4] DEFECT OF FEMUR AND FIBULA WITH AMELIA, PEROMELIA OR ULNAR RADIAL DEFECTS OF THE ARM - SYNDROME [J].

KUHNE, D ;

LENZ, W ;

PETERSEN, D ;

SCHONENB. .

HUMANGENETIK, 1967, 3 (03) :244-244

[5] PATHOLOGICAL FEATURES AND PRENATAL-DIAGNOSIS IN THE NEWLY RECOGNIZED LIMB PELVIS-HYPOPLASIA APLASIA SYNDROME [J].

RAASROTHSCHILD, A ;

GOODMAN, RM ;

MEYER, S ;

KATZNELSON, MB ;

WINTER, ST ;

GROSS, E ;

TAMARKIN, M ;

BENAMI, T ;

NEBEL, L ;

MASHIACH, S .

JOURNAL OF MEDICAL GENETICS, 1988, 25 (10) :687-697

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