TY - CHAP M1 - Book, Section TI - HARD Syndrome A1 - Bissonnette, Bruno A1 - Luginbuehl, Igor A1 - Engelhardt, Thomas PY - 2019 T2 - Syndromes: Rapid Recognition and Perioperative Implications, 2e AB - HARD is an acronym that stands for Hydrocephalus, Agyria, and Retinal Dysplasia. A very rare and severe autosomal recessive syndrome that becomes quickly lethal. Most of the syndromic children die in the first 3 years of life because of respiratory failure, pneumonia, seizures, hyperthermia, and ventricular fibrillation. It is characterized with major neurologic impairments, including type II lissencephaly in association with retinal dysplasia, obstructive hydrocephalus, and agenesis of the corpus callosum. Affected infants typically have severe growth failure, severe microcephaly, seizures, microphthalmia, and cataracts. Other features that have been reported in association with HARD Syndrome include coloboma, Persistent Hyperplastic Primary Vitreous (PHPV) also known as Persistent Fetal Vasculature, cataracts, glaucoma, buphthalmos, anterior chamber dysgenesis, optic atrophy, and optic nerve hypoplasia. It is the most severe form of congenital muscular dystrophy with most children dying before the age of 3 years. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/28 UR - accessanesthesiology.mhmedical.com/content.aspx?aid=1164072121 ER -