Metacarpophalangeal pattern profile analysis in Sotos 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 کاملSotos Syndrome
Sotos syndrome is an uncommon condition that affects approximately one in fourteen thousand of the population. Until recently, doctors would diagnose Sotos syndrome on the basis of several common features that include characteristic facial appearance, a degree of learning disability, increased head circumference and large stature. A sample of blood was often taken for genetic testing that could...
متن کاملSotos syndrome
Sotos syndrome is an overgrowth condition characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty, and associated with variable minor features. The exact prevalence remains unknown but hundreds of cases have been reported. The diagnosis is usually suspected after birth because of excessiv...
متن کاملSotos syndrome.
In 1964 Sotos et all described five children with (1) large body size and early accelerated growth, (2) acromegaloid features, (3) advanced bone age, and (4) developmental delay and a non-progressive neurological disorder. Since this report over 200 further cases have been described, many with additional observations. Inclusion of new features into the clinical spectrum of Sotos syndrome has ma...
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...
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ژورنال
عنوان ژورنال: American Journal of Medical Genetics
سال: 1985
ISSN: 0148-7299,1096-8628
DOI: 10.1002/ajmg.1320200408