摘要:

Two young siblings with hereditary spastic diplegia and mental retardation (Böök's syndrome) have had detailed clinical investigations since infancy. The inheritance pattern of this syndrome in the present family fits well with an autosomal recessive trait ‐ with affected sibs of opposite sex, born to consanguineous healthy pare

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1989.tb03373.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

摘要:

A sibship is reported of three generations of a Jordanian family of normal intelligence with a complex malformation of upper extremity, shoulder and thorax, which is combined with variously expressed congenital heart disease. The deformity consists of a flat glenoid fossa, a hypoplastic scapula, aplasia of the humerus and/or radius, bony spurs of the elbow joint and in the shoulder region, hypoplasia of the carpal joints and hypodactyly with aplasia of the thumb. The claviculae are short, thick and abnormally curved and there are kyphoscoliosis and pectus excavatum. Four siblings show congenital heart disease. Pelvis and lower extremity are normal. The condition is inherited as a Mendelian autosomal dominant.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1989.tb03374.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

摘要:

In this report we describe an apparently new MCA‐MR syndrome with Dandy‐Walker malformation in three severely mentally retarded siblings born to normal, non‐consanguineous parents. In addition, they presented macrocephaly, facial dysmorphism, extreme myopia and brachytelephalangy with short and broad finger

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1989.tb03375.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

摘要:

A 4 9/12‐year‐old boy with achalasia microcephaly syndrome (AMS), born to a consanguineous couple, is reported. Comparative analysis of this case and the patients previously described in a Mexican family supports the notion that the syndrome is a distinct autosomal recessive condition. It is interesting that the area of origin and ethnicity of both the present and the previously reported cases is northwest Mex

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1989.tb03376.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

摘要:

We have performed, in a large Swiss family, a study of linkage between various DNA markers in the Xq24–27 region and the locus for the X‐linked lymphoproliferative syndrome (XLP). Our results indicated that the marker DXS37 in Xq25‐q26 is genetically linked to the XLP syndrome. The multipoint linkage analysis showed that the disease locus is distal to DXS11, but proximal to the hypoxanthine phosphoribosyl‐transferase gene

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1989.tb03377.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1989.tb03378.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1989.tb03379.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1989.tb03380.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1989.tb03381.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY