Metacarpophalangeal pattern profile analysis in diastrophic dysplasia
نویسندگان
چکیده
منابع مشابه
Diastrophic dysplasia: case report.
This report describes the clinical features of an 11-yearold male whose genetic evaluation supports the diagnosis of diastrophic dysplasia. A professional team evaluated and treated him with regard to facial development, various physical problems, and pediatric dental management of his intraoral conditions. Cardiopulmonary function often is compromised because of kyphoscoliosis. This along with...
متن کاملMetacarpophalangeal 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 کاملDevelopment of the hip in diastrophic dysplasia.
We examined 50 patients with diastrophic dysplasia both clinically and radiologically. Two legally aborted fetuses were dissected. The mean age of the patients was 16.2 years (newborn to 38) and the mean follow-up was 11.4 years (3 months to 34 years). The fetal hips and MRI of newborn infants showed congruity and no significant joint deformity. Flexion contracture of the hip became evident lat...
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, ...
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ژورنال
عنوان ژورنال: American Journal of Medical Genetics
سال: 1987
ISSN: 0148-7299,1096-8628
DOI: 10.1002/ajmg.1320280316