منابع مشابه
New autosomal recessive faciodigitogenital syndrome.
Most pedigrees of Aarskog's faciodigitogenital syndrome have suggested X linked inheritance. However, sex influenced autosomal dominant inheritance is also a possibility in some families. We describe an Arab family of normal consanguineous parents with five children (three males and two females) with some features of Aarskog syndrome in addition to some unusual hair changes. The possibility tha...
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We studied 21 patients with Sanjad-Sakati syndrome (SSS) from 16 families. Parental consanguinity was recorded in 2 families (12.5%). All patients had severe intrauterine growth retardation, short stature, small hands and feet, blue sclera, deep-set eyes, microcephaly, persistent hypocalcaemia and hypoparathyroidism. Medullary stenosis was detected in 2 patients. Cytogenetic and fluorescent in ...
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OBJECTIVE To illustrate the clinical features, laboratory findings, and management of anticonvulsant hypersensitivity syndrome (AHS), emphasizing the importance of recognizing its multiple clinical components and raising awareness of the cross-sensitivity among different anticonvulsants. CLINICAL PRESENTATION AND INTERVENTION Two cases of AHS due to carbamazepine and a combination of sodium v...
متن کاملClinical and Neurophysiological Pattern of Guillain-Barr Syndrome in Kuwait
Objective: To study the clinical and neurophysiological pattern of Guillain-Barré syndrome (GBS) in Kuwait. Materials and Methods: The clinical records of consecutive GBS patients admitted to Ibn Sina Hospital, Kuwait, during a 7-year period between 1997 and 2003 were analyzed. Results: Of the 41 cases, 77% were male. The majority of the cases presented during the winter months and a preceding ...
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The objective was to study antiphospholipid antibody syndrome (APS or Hughes syndrome) in two major teaching hospitals in Kuwait. patients with suspected Hughes syndrome were investigated with tests for anticardiolipin antibodies (aCL) and lupus anticoagulants (LAC) over 1 yr. Diagnosis was considered confirmed if significant levels of either or both antibodies with no obvious cause (primary), ...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1991
ISSN: 1468-6244
DOI: 10.1136/jmg.28.11.805