ESPE Abstracts

Introduction: Physical examination remains the cornerstone of medical practice. However, its importance has been underestimated during COVID-19 pandemic because of concerns related to exposure risk and use of personal protective equipment. Solitary median maxillary central incisor (SMMCI) may be an isolated clinical trait or associated with other anomalies and endocrine pathologies including hypopituitarism, hypothyroidism, isolated growth hormone (GH) deficie...

Introduction: Noonan syndrome-like disorder with loose anagen hair (NSLH1), also known as Mazzanti syndrome (OMIM#607721) is a RASopathy due to missense mutation (c.4A>G, p.Ser2Gly) in SHOCK2 gene. The NSHL1 is characterized by Noonan syndrome-like facial dysmorphisms, easily pluckable, slow growing, sparse and thin hair, growth retardation, variable neurocognitive impairment and cardiac anomalies.Aim: To present an a...