فهرست نشریات علمی دسترسی آزاد ایران

Introduction: H syndrome (OMIM 612391) is an autosomal recessive disease with some features such as hyperpigmentation, hypertrichosis, heart anomalies, hepatosplenomegaly, hearing deficit, hypogonadism, short stature, flexion contracture of fingers and toes and hypertriglyceridemia. Conclusions: We described a case with many clinical manifestations of H syndrome in addition to new characteristics such as microphallus. H syndrome should be considered in individuals with a constellation of symptoms as hyperpigmentation, hypertrichosis, heart anomalies, hepatosplenomegaly, hearing deficit, hypogonadism, short stature, flexion contracture of fingers and toes and hypertriglyceridemia.