GAPO syndrome associated with dilated cardiomyopathy: an unreported association.

摘要

GAPO syndrome is a very rare genetic disorder with the cardinal manifestations of: growth retardation with delayed bone age (G), alopecia (A), pseudoanodontia (P), and optic atrophy (O) [Orbak et al.,2002]. We present for the first time a patient with GAPO syndrome associated with dilated cardiomyopathy. We also discussed the possible explanation for this association. The purpose of this report is to investigate the importance of cardiovascular and endocrino-logic investigations in GAPO syndrome. A 31-year-old male patient who was followed up as GAPO syndrome, was admitted to our hospital due to dyspnea complaint. His parents were consanguineous parents (first-degree cousins). His physical examination showed that he had normal mental status and typical clinical features of GAPO syndrome such as frontal bossing, prematurely aged face, glaucoma, buphthalmos, micro-gnatia, total alopecia, some body hair, having short stature, dis-proportional body build, failure of tooth eruption (pseudoanodontia), absent eyebrows and eyelashes (Figs. 1 and 2).