Abstract
Diagnosis of the Whistling-Face syndrome (WF) usually follows the observation of microstomia and a stigmatic facies associated with ulnar deviation of fingers and joint contractures. Muscle atrophy and myopathy, although reported in WF, receive insufficient emphasis. More recently, cardiomyopathy and malignant hyperthermia have been observed in WF patients. Our clinical studies and review bring support to the conclusion that the spectrum of WF includes; skeletal weakness, hypertrophic cardiomegaly with WPW conduction abnormalities (unresponsive to quinidine), and elevated serum CPK, GOT, and LDH. Hypertrophic cardiomyopathy with enlarged myofilaments due to abundant amyloid-like material, and skeletal myopathy with scattered fiber atrophy and focal areas of fatty deposition and myelin fibers, are also part of WF.
Consequently, individuals with primary hypertrophic cardiomyopathy or a history of malignant hyperthermia should also be assessed for clinical features of WF and vice versa. Because WF presents with clinical variability and is an autosomal dominant disorder of prenatal onset, a family history of any of the features described above may be pertinent in genetic counseling and prenatal assessment of families with WF syndrome.
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Wertelecki, W., Laycock, D. & Superneau, D. MYOPATHY (SKELETAL AND CARDIAC) AND WHISTLING-FACE SYNDROME (WF). Pediatr Res 21 (Suppl 4), 231 (1987). https://doi.org/10.1203/00006450-198704010-00389
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DOI: https://doi.org/10.1203/00006450-198704010-00389