Multiple pterygium syndrome: a relatively common disorder among Arabs.
نویسندگان
چکیده
منابع مشابه
Multiple pterygium syndrome.
The multiple pterygium syndrome is a rare autosomal recessive condition characterised by arthrogryposis multiplex congenita, pterygia of the neck, fingers, and antecubital, popliteal, and intercrural areas, growth retardation, and facial, vertebral, and genital anomalies. We present two unrelated patients of 17 and 6 years of age, respectively, affected with this condition. We describe the natu...
متن کاملMultiple pterygium syndrome: evolution of the phenotype.
The clinical features of the multiple pterygium syndrome are multiple congenital joint contractures, multiple skin webs, camptodactyly, vertebral anomalies, short stature, ptosis, and antimongoloid eye slant. We present 11 new cases to show the evolution of the full phenotype from birth and to confirm autosomal recessive inheritance. We emphasise morbidity secondary to respiratory impairment an...
متن کاملAn autosomal dominant multiple pterygium syndrome.
Three sibs and their mother with features of a multiple pterygium syndrome are reported. Inheritance in this family is consistent with autosomal dominant inheritance with great variation in severity between affected subjects. The importance of examining other family members closely in cases of multiple pterygium is emphasised.
متن کاملPopliteal pterygium syndrome.
The popliteal pterygium syndrome is a highly characteristic congenital malformation syndrome affecting the face, limbs, and genitalia. Gorlin et all 2 coined the term 'popliteal pterygium syndrome' on the basis of the most unusual anomaly, the popliteal web. In some publications the names of Fevre and Languepin3 are used as an eponym. A more descriptive term suggested for the condition, on the ...
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Lipedema, or adiposis dolorosa, is a common adipose tissue disorder that is believed to affect nearly 11% of adult women worldwide. It is characterized most commonly by disproportionate adipocyte hypertrophy of the lower extremities, significant tenderness to palpation, and a failure to respond to extreme weight loss modalities. Women with lipedema report a rapid growth of the lipedema subcutan...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1990
ISSN: 1468-6244
DOI: 10.1136/jmg.27.12.791