Metacarpophalangeal pattern profile analysis in Robinow 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 کاملUnusual traits associated with Robinow syndrome.
We report on some members of two unrelated families showing the characteristic features of Robinow syndrome. In a consanguineous Kuwaiti family, the index case with Robinow syndrome showed some unusual features including severe IUGR, laxity of ligaments, hyperextensible joints, redundant skin folds, severe normocytic anaemia, repeated infection, increased percentage of total T cells and CD4 pos...
متن کاملA case report on autosomal recessive Robinow syndrome.
BACKGROUND Robinow syndrome or "foetal face" syndrome is an extremely rare genetic disorder with characteristic skeletal and orofacial findings. The purpose of the present case report is to describe the clinical findings of an 8 year-old female patient with autosomal recessive Robinow syndrome. CASE REPORT The patient was born to consanguineous parents and had anomalies typical of the recessi...
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ژورنال
عنوان ژورنال: American Journal of Medical Genetics
سال: 1987
ISSN: 0148-7299,1096-8628
DOI: 10.1002/ajmg.1320270125