Grebe syndrome: a second case with extremely severe manifestations.
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چکیده
منابع مشابه
Grebe syndrome: a second case with extremely severe manifestations.
ous couple (first cousins once removed) of Italian ancestry. The family history was unremarkable and the pregnancy had been uneventful. Clinical examination showed marked micrognathia, a normal neck and trunk, and shortening of all four limbs, the lower being more severely affected than the upper. The shortening was progressive, from proximal to distal, the fingers were bud-like (fig 2), the lo...
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متن کاملGrebe syndrome: a rare association with congenital heart disease.
Grebe syndrome is a very rare form of short-limbed dwarfism. It is a genetic condition, passed by autosomal recessive inheritance. It is characterized by marked acromesomelic shortening of all the four limbs. There are no other associated anomalies. The affected baby has normal intelligence and normal life span. We present here a case of Grebe syndrome along with congenital heart disease.
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1997
ISSN: 1468-6244
DOI: 10.1136/jmg.34.12.1038