Qazi Markouizos syndrome
MONDO:0010816Qazi-Markouizos syndrome is characterized principally by non-progressive central hypotonia, chronic constipation, severe psychomotor retardation, abnormal dermatoglyphics, dysharmonic skeletal maturation and disproportionate muscle fibers. Seizures or an abnormal electroencephalograph were also reported. To date, the syndrome has been reported in three unrelated Puerto Rican boys.
Also known as: Dysharmonic skeletal maturation - muscular fiber disproportion, Dysharmonic skeletal maturation-muscular fiber disproportion syndrome, Dysharmonic skeletal maturation-muscular fibre disproportion syndrome, Qazi-Markouizos syndrome, Dysharmonic skeletal maturation muscular fiber disproportion, Dysharmonic skeletal maturation muscular fibre disproportion, PUERTO RICAN infant hypotonia syndrome, Puertorican infant hypotonia syndrome
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