Metacarpophalangeal pattern profile analysis in Noonan syndrome
نویسندگان
چکیده
منابع مشابه
Metacarpophalangeal pattern profile analysis in fragile X syndrome.
We analyzed the metacarpophalangeal pattern profile (MCPP) on 18 male individuals from 16 families with fragile X--fra (X), or Martin-Bell--syndrome and calculated a mean syndrome profile. Fourteen of 18 individuals with fra (X) syndrome had significant positive correlations which indicated clinical homogeneity. Discriminant analysis of individuals with fra (X) syndrome compared with a sample o...
متن کاملMetacarpophalangeal pattern (MCPP) profile analysis in a family with triphalangeal thumb.
Triphalangeal thumb (TPT) is a rare congenital disorder characterised by a long, finger-like thumb with three phalanges instead of two. It can occur as an isolated defect, in association with other abnormalities of the hands and feet, or as a part of a syndrome. Sporadic cases have been described, but it is usually inherited as an autosomal dominant trait. In order to examine skeletal morpholog...
متن کاملMetacarpophalangeal pattern profile analysis of a sample drawn from a North Wales population.
Sexual dimorphism and population differences were investigated using metacarpophalangeal pattern profile (MCPP) analysis. Although it is an anthropometric technique, MCPP analysis is more frequently used in genetic syndrome analysis and has been under-used in the study of human groups. The present analysis used a series of hand radiographs from Gwynedd, North Wales, to make comparisons, first, ...
متن کاملNoonan syndrome.
Noonan syndrome is a common autosomal dominant condition caused by multiple genes in the RasMAPK pathway. The adult phenotype can be extremely subtle, and many adults are diagnosed only after the birth of a more obviously affected child. Whether diagnosis is made in childhood or adulthood, initial and ongoing evaluation of many systems can have considerable health benefits.
متن کاملNoonan syndrome
Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphology and congenital heart defects. The incidence of NS is estimated to be between 1:1000 and 1:2500 live births. The main facial features of NS are hypertelorism with down-slanting palpebral fissures, ptosis and low-set posteriorly rotated ears with a thickened helix. The cardiovascular defects most commonly associa...
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ژورنال
عنوان ژورنال: American Journal of Medical Genetics
سال: 2000
ISSN: 0148-7299,1096-8628
DOI: 10.1002/(sici)1096-8628(20000515)92:2<128::aid-ajmg9>3.3.co;2-u