Robinow syndrome: a diagnosis at the fingertips
نویسندگان
چکیده
منابع مشابه
Prenatal diagnosis of autosomal recessive Robinow syndrome using 3D ultrasound
This article hypothesizes that it is possible to detect and diagnose both the autosomal recessive and dominant forms prenatally using ultrasound. By focusing on the characteristic phenotypical presentation, the examinator is able to diagnose the syndrome prenatally, which is of clinical importance to the parents and counseling for the consideration of terminating the pregnancy.
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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...
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ژورنال
عنوان ژورنال: Clinical Dysmorphology
سال: 2018
ISSN: 0962-8827
DOI: 10.1097/mcd.0000000000000230