Definition:
Say Meyer syndrome is a familial condition characterized by short stature, trigonocephaly, motor impairment, and mental retardation.
Say Meyer syndrome is named after Burhan Say, a Turkish medical geneticist, and Julia Meyer, an American physician, who both discovered the disorder.
Symptoms and Signs:
A classic sign of Say Meyer syndrome is trigonocephaly, which pertains to a certain skull deformity wherein the skull is sharply angled in front of the ears, giving a triangular appearance.
In addition to trigonocephaly, Say Meyer syndrome also presents with head and neck symptoms in the form of craniosynostosis affecting the metopic suture.
Additional symptoms of Say Meyer syndrome include closed posterior fontanel, premature synostosis of the lambdoid suture, frontal vertical ridging, involvement of the sagittal suture, appearance of a narrow forehead, and hypotelorism in eyes. In some cases, affected patients show a highly arched palate, clinodactyly and ventricular septal defect. Impairment in growth, motor function, and mental state has also been observed.
Causes:
Say Meyer syndrome is a hereditary x-linked recessive disease.
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