Three distinct neurodevelopmental disorders arise primarily from deletions or duplications that occur at the 15q11-q13 locus: Prader-Willi syndrome, Angelman syndrome, and 15q11-q13 duplication syndrome. Each of these disorders results from…
Malformations of cortical development (MCDs) are a common cause of neurodevelopmental delay and epilepsy and are caused by disruptions in the normal development of the cerebral cortex. Several causative genes…
Gyula Acsadi, MD, PhD, Editor “Our knowledge of the pathological substratum of the various forms of mental derangement is still very imperfect. In the majority of cases, there may be…
Bonita F. Stanton, MD, Consulting Editor This exciting volume of Pediatric Clinics of North America eloquently tells the story of the advances in our understanding and treatment of many previously…
PEDIATRIC CLINICS OF NORTH AMERICA www.pediatric.theclinics.com Consulting Editor BONITA F. STANTON June 2015 • Volume 62 • Number 3
The use of targeted gene panels now allows the analysis of all the genes known to cause a disease in a single test. For neonatal diabetes, this has resulted in…
In hyperinsulinemic hypoglycemia (HH) there is dysregulation of insulin secretion from pancreatic β-cells. Insulin secretion becomes inappropriate for the level of blood glucose leading to severe hypoglycemia. HH is associated…
Gender variant and transgender youth are seeking medical care at younger ages. Pediatricians and other primary care physicians are often the first professionals who encounter such youth and their families….
A newborn with genital ambiguity requires careful diagnostic evaluation to identify the underlying etiology in an efficient manner and assign gender without lengthy delay. The infant’s family needs comprehensive psychosocial…
Some proponents of recombinant human growth hormone (rhGH) treatment in growth hormone–sufficient children cite height, as an isolated physical characteristic, as being associated with psychosocial morbidity. Others question the reliability…
