Woodhouse-Sakati syndrome: case report and symptoms review.
We report on a 52-year old Caucasian woman exhibiting signs of Woodhouse - Sakati syndrome and review the clinical signs and symptoms in patients reported so far. The syndrome is characterized by alopecia, mental retardation, hypogonadism, diabetes mellitus, hearing impairment, ECG changes, and by autosomal recessive inheritance. We also propose that the limited mobility of the upper extremities is one of the features of the syndrome.
Medica
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Division of Medical Genetics, Department of Obstetrics and Gynaecology, University Medical Centre Ljubljana, Slovenia.
Sepcić
J
J
Peterlin
B
B
D000505:Alopecia / Q000175:diagnosis / Q000235:genetics*; D001145:Arrhythmias, Cardiac / Q000175:diagnosis / Q000235:genetics*; D001284:Atrophy; D001480:Basal Ganglia Diseases / Q000175:diagnosis / Q000235:genetics; D001921:Brain / Q000473:pathology; D002114:Calcinosis / Q000175:diagnosis / Q000235:genetics; D002869:Chromosome Aberrations; D003241:Consanguinity; D003286:Contracture / Q000175:diagnosis / Q000235:genetics; D017523:Croatia; D003922:Diabetes Mellitus, Type 1 / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive / Q000235:genetics*; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007006:Hypogonadism / Q000175:diagnosis / Q000235:genetics*; D007037:Hypothyroidism / Q000175:diagnosis / Q000235:genetics; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D007621:Karyotyping; D008875:Middle Aged; D051346:Mobility Limitation; D018908:Muscle Weakness / Q000175:diagnosis / Q000235:genetics; D013577:Syndrome; D014057:Tomography, X-Ray Computed