TY - CHAP M1 - Book, Section TI - De Morsier Syndrome A1 - Bissonnette, Bruno A1 - Luginbuehl, Igor A1 - Engelhardt, Thomas PY - 2019 T2 - Syndromes: Rapid Recognition and Perioperative Implications, 2e AB - It is a rare genetic medical condition characterized by a triad of optic nerve hypoplasia, structural brain abnormalities, and hypothalamic/pituitary deficiencies. To establish the diagnosis, two of the three features must be present. All three are only present in 30% of affected individuals. Neuroradiologically, this syndrome is defined by agenesis of the interhemispheric septum pellucidum, schizencephaly, hydranencephaly, and holoprosencephaly. Clinically, other important features include mild to severe developmental delay, seizures, visual impairment, sleep disturbance, precocious puberty, microgenitalia (especially in males), obesity, anosmia, sensorineural hearing loss, and cardiac anomalies. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/29 UR - accesspediatrics.mhmedical.com/content.aspx?aid=1164067547 ER -