ACHEIROPODIA - REPORT ON 4 NEW BRAZILIAN PATIENTS

被引：3

作者：

FETTCONTE, AC

RICHIERICOSTA, A

机构：

[1] UNIV SAO PAULO,HOSP PESQUISA & REABIL LESOES LABIO PALATAIS,GENET HUMANA LAB,POB 620,BR-17043 BAURU,SP,BRAZIL

[2] UNIV NACL ESTADUAL SAO PAULO,INST BIOCIENCIAS LETRAS & EXATAS,DEPT BIOL,SAO JOSE RIO PRIETO,SP,BRAZIL

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1990年 / 36卷 / 03期

关键词：

acheiropodia; autosomal recessive inheritance; consanguinity; limb congenital anomaly;

D O I：

10.1002/ajmg.1320360320

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on 4 new patients with acheiropodia ('the handless and footless families of Brazil'). This autosomal recessive condition involves all 4 limbs with a well-defined pattern of defects. Two of the patients described here had a small bone fragment in the upper stumps (Bohomoletz bone), an uncommon finding in acheiropodia.

引用

页码：341 / 344

页数：4

共 8 条

[1] GENETICS OF ACHEIROPODIA (HANDLESS AND FOOTLESS FAMILIES OF BRAZIL) .9. GENETIC-COUNSELING
FREIREMAIA, A
FREIREMAIA, N
SCHULL, WJ
[J]. HUMAN HEREDITY, 1975, 25 (04) : 329 - 336
[2] GENETICS OF ACHEIROPODIA (HANDLESS AND FOOTLESS FAMILIES OF BRAZIL) .4. SEX-RATIO, CONSANGUINITY AND BIRTH-ORDER
FREIREMAIA, A
CHAKRABORTY, R
[J]. ANNALS OF HUMAN GENETICS, 1975, 39 (OCT) : 151 - 161
[3] HISTORICAL NOTE - THE EXTRAORDINARY HANDLESS AND FOOTLESS FAMILIES OF BRAZIL - 50 YEARS OF ACHEIROPODIA
FREIREMAIA, A
[J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1981, 9 (01): : 31 - 41
[4] GENETICS OF ACHEIROPODIA (THE HANDLESS AND FOOTLESS FAMILIES OF BRAZIL) .10. ROENTGENOLOGIC STUDY
FREIREMAIA, A
LAREDOFILHO, J
FREIREMAIA, N
[J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1978, 2 (04): : 321 - 330
[5] FREIREMAIA A, 1975, CLIN GENET, V7, P98
[6] FREIREMAIA A, 1975, AM J HUM GENET, V27, P521
[7] VARIABLE EXPRESSIVITY OF THE ACHEIROPODIA GENE
GRIMALDI, A
MASIERO, D
RICHIERICOSTA, A
FREIREMAIA, A
[J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1983, 16 (04): : 631 - 634
[8] PEACOCK W, 1929, EUGEN NEWS, V15, P59

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