Psychomotor Retardation, Low Set Ears, Retrognathia, Facial Dysmorphism and Schizencephaly: A New Dysmorphic Syndrome

Background: Schizencephaly is a rare primary congenital brain defect of heterogeneous nature resulting from abnormal morphogenesis with a very early disruption of the grey matter migration during embryogenesis. Braga et al (2018) reviewed 156 articles including 734 patients with schizencephaly, and none of them had facial dysmorphism, low set ears or micrognathia Patients and methods A dysmorphic male infant who was referred to the neuropsychiatric consultation clinic of the Children Teaching hospital of Baghdad medical city was studied. Results Four month male infant presented with psychomotor retardation with no interaction with the mother and no recognition of her face. He had low set ears, retrognathia, and facial dysmorphism with narrow and upslanting palpebral fissures and thin upper lips. Family history was negative for a similar condition. Brain CT-scan showed open limb bilateral schizencephaly and karyotype showed normal finding. Conclusion: A new dysmorphic syndrome associated with schizencephaly, facial dysmorphism, low set ears and micrognathia is reported.