Dwarfism with gloomy face: a new syndrome with features of 3-M syndrome.
نویسندگان
چکیده
منابع مشابه
Dwarfism with gloomy face: a new syndrome with features of 3-M syndrome.
Nine children with primordial dwarfism are described and a new syndrome is delineated. The significant features of this syndrome include facial dysmorphism with gloomy face and very short stature, but no radiological abnormality or hormone deficiency. Mental development is normal. The mode of inheritance seems to be autosomal recessive because of consanguinity in three of the four sibships. Som...
متن کامل3-M Syndrome / Primordial Dwarfism Panel
Numerous monogenic causes of growth disorders have been identified. Inheritance of most disorders covered by this panel is autosomal recessive, but familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome is considered to have autosomal dominant inheritance. This panel covers, but is not limited to, genes and disorders covered by the subpanels. and therefore enables ef...
متن کامل3-M Syndrome / Primordial Dwarfism Panel
Numerous monogenic causes of growth disorders have been identified. Inheritance of most disorders covered by this panel is autosomal recessive, but familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome is considered to have autosomal dominant inheritance. This panel covers, but is not limited to, genes and disorders covered by the subpanels. and therefore enables ef...
متن کامل3-M Syndrome / Primordial Dwarfism Panel
Numerous monogenic causes of growth disorders have been identified. Inheritance of most disorders covered by this panel is autosomal recessive, but familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome is considered to have autosomal dominant inheritance. This panel covers, but is not limited to, genes and disorders covered by the subpanels. and therefore enables ef...
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Camptomelic dwarfism or dysplas1a is a rare syndrome in which· short stature is associated with angulation and bowing of the lower limb Long bones, hypoplasia of the facial bones and scapula and various other skeletal and respiratory and nervous system. A 9 day old girl with this syndrome was admitted in our peiatric Department, Loghman Hospital medical center because of Dwarfism and hypotonia....
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1991
ISSN: 1468-6244
DOI: 10.1136/jmg.28.3.186