Woodhouse-Sakati syndrome: case report and symptoms review

Genet Couns. 2007;18(2):227-31.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Alopecia / diagnosis
  • Alopecia / genetics*
  • Arrhythmias, Cardiac / diagnosis
  • Arrhythmias, Cardiac / genetics*
  • Atrophy
  • Basal Ganglia Diseases / diagnosis
  • Basal Ganglia Diseases / genetics
  • Brain / pathology
  • Calcinosis / diagnosis
  • Calcinosis / genetics
  • Chromosome Aberrations*
  • Consanguinity
  • Contracture / diagnosis
  • Contracture / genetics
  • Croatia
  • Diabetes Mellitus, Type 1 / diagnosis
  • Diabetes Mellitus, Type 1 / genetics*
  • Female
  • Genes, Recessive / genetics*
  • Hearing Loss, Sensorineural / diagnosis
  • Hearing Loss, Sensorineural / genetics*
  • Humans
  • Hypogonadism / diagnosis
  • Hypogonadism / genetics*
  • Hypothyroidism / diagnosis
  • Hypothyroidism / genetics
  • Intellectual Disability / diagnosis
  • Intellectual Disability / genetics*
  • Karyotyping
  • Middle Aged
  • Mobility Limitation
  • Muscle Weakness / diagnosis
  • Muscle Weakness / genetics
  • Syndrome
  • Tomography, X-Ray Computed