Qazi-Markouizos syndrome

Qazi-Markouizos syndrome is characterised principally by non-progressive central hypotonia, chronic constipation, severe psychomotor retardation, abnormal dermatoglyphics, dysharmonic skeletal maturation and disproportionate muscle fibres. Seizures or an abnormal electroencephalograph were also reported. To date, the syndrome has been reported in three unrelated Puerto Rican boys.

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Aliases

• Dysharmonic skeletal maturation - muscular fiber disproportion
• Dysharmonic skeletal maturation - muscular fibre disproportion
• Dysharmonic skeletal maturation muscular fibre disproportion
• Dysharmonic skeletal maturation-muscular fiber disproportion syndrome
• hypotonia, psychomotor retardation, seizures, delayed and Dysharmonic skeletal maturation, and congenital fibre type disproportion
• PUERTO RICAN infant hypotonia syndrome
• Puertorican infant hypotonia syndrome
• Qazi Markouizos syndrome
• Qazi-Markouizos syndrome