Disorders Associated with Cardiomyopathy Hypertrophic cardiomyopathy (see Chap. 67) has been associated with Friedreich's ataxia, Turner's syndrome, Noonan's syndrome, Fabry's
[arthritisresearch.us]
Symptoms INHERITANCE: Autosomal recessive HEAD AND NECK: [Head]; Microcephaly (1 patient); [Eyes]; Nystagmus; Poor smooth pursuit; Poor visual fixation (1 patient) MUSCLE,
[findzebra.com]
[…] karyotypes - can be male or female - short stature, webbed neck, pectus carinatum/excavatum, cubitus valgus - Right sided heart lesions: Pulmonic stenosis, ASD, hypertrophic cardiomyopathy
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