In a study of 138 patients with thalassemia major (homozygous β-thalassemia, Cooley's anemia), 94 presented typical cephalofacial deformities (CFDs) on clinical inspection. The patient's age and duration of clinical symptoms, the degree of anemia, and the age at onset of transfusions are important in determining the development of CFD and are correlated positively with the degree of such changes. Splenectomy performed no later than the age of four years had some beneficial effect against CFD. Cephalofacial deformities irrespective of degree implied no intellectual impairment in the patients studied. The high incidence of a proximal type of muscular disorder, which occurred only in patients with CFD suggests possible common underlying mechanisms for skeletal and muscular abnormalities. Degree of CFD was proportional in severity to several systemic abnormalities characterizing homozygous β-thalassemia.
Logothetis J, Economidou J, Constantoulakis M, Augoustaki O, Loewenson RB, Bilek M. Cephalofacial Deformities in Thalassemia Major (Cooley's Anemia): A Correlative Study Among 138 Cases. Am J Dis Child. 1971;121(4):300–306. doi:10.1001/archpedi.1971.02100150074007
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