Introduction Autosomal recessive pontocerebellar hypoplasias (PCHs) are a group of severe neurodegenerative disorders affecting the cerebellum and pons. This disease appears in fetal or neonatal life with subsequent pontocerebellar degeneration, progressive microcephaly, and atrophy of the cerebral cortex. Most affected…
Introduction Noonan syndrome (NS), first described by Dr. Jacqueline Noonan in 1968, is a disorder characterized by facial dysmorphisms, cardiovascular defects primarily consisting of pulmonary stenosis, short stature, and variable developmental delay. In addition, affected individuals often display pectus excavatum…
Introduction Cornelia de Lange syndrome (CdLS), also known as Brachmann-de Lange or de Lange syndrome, is a condition characterized by mental retardation, craniofacial dysmorphism, prenatal and postnatal growth failure, hirsutism, and upper limb abnormalities. Other defects occasionally associated with CdLS…