Cleft Lip and Cleft Palate
Overview Classification Orofacial clefts (OFCs) can be isolated or part of a multi-organ syndrome. OFCs include: Cleft lip (CL) with or without cleft palate (CLP) Cleft palate (CP) Typical orofacial clefts can be further subdivided based on the anatomy and position of the cleft: Clefts anterior to the alveolus (unilateral, median, or bilateral) Complete and […]
Hyperbilirubinemia of the Newborn
Overview Definition Hyperbilirubinemia of the newborn is defined as a yellow discoloration of the skin and sclera of the newborn usually due to the tissue deposition of unconjugated bilirubin, the end product of heme-protein catabolism. Epidemiology Etiology Increased indirect (unconjugated) bilirubin Positive Coombs test: isoimmunization Negative Coombs test Increased direct (conjugated) bilirubin Risk Factors Major […]
Developmental Dysplasia of the Hip
Overview Definitions Classification Epidemiology Risk factors Etiology and Pathophysiology Etiology Developmental dysplasia of the hip is caused by an inadequate reduction of the femoral head in the acetabulum. This can occur due to several factors. Pathophysiology Normal development of the hip is dependent on contact between the acetabulum and femoral head. However, in DDH: Clinical […]
Precocious Puberty
Overview Definition Classification Epidemiology The prevalence of precocious puberty varies based on the race and ethnic makeup of the population. Etiology Central precocious puberty Peripheral precocious puberty Causes of isosexual precocious puberty Causes of heterosexual precocious puberty Girls Ovarian tumors Ovarian cysts Feminizing adrenal tumors Exogenous estrogens McCune-Albright syndrome Congenital adrenal hyperplasia Adrenal tumors Exogenous […]
Elimination Disorders
Enuresis: Overview Definition Epidemiology Classification Enuresis: Diagnosis and Management Clinical assessment The primary goal of assessment is to determine if an underlying medical condition is present that could explain the incontinence (e.g., constipation, diabetes mellitus, diabetes insipidus). Diagnosis The diagnosis of enuresis is primarily through history, physical examination, and urinalysis. Management Encopresis: Overview Definition Encopresis […]
Neonatal Polycythemia
Overview Definitions Neonatal polycythemia (absolute polycythemia): increased erythrocyte mass defined as hematocrit (HCT) > 65% or hemoglobin (Hb) > 22 g/dL Hemoconcentration (relative polycythemia): a decrease in plasma volume resulting in an increased concentration of erythrocytes Epidemiology 1%–2% of children born at sea level 5% of children born at high altitudes Etiology Increased fetal erythropoiesis Placental […]
Hydrocephalus in Children
Epidemiology Incidence Risk factors Classification There are different ways to characterize hydrocephalus, each of which can help physicians better understand the underlying cause and determine the appropriate treatment. Communicating versus non-communicating Congenital versus acquired Pathophysiology Normal CSF production Acquired hydrocephalus Clinical Presentation Symptoms Physical examination Diagnosis Management Any patient with hydrocephalus and symptoms of ICP […]
Friedreich Ataxia
Overview Definitions Genetics and pathophysiology Epidemiology Clinical Presentation Neurologic features Non-neurologic features Diagnosis Genetic testing Imaging Management Differential Diagnosis The differential diagnosis for FA includes the following conditions: References
Neonatal Abstinence Syndrome
Epidemiology and Etiology Epidemiology Drug use in pregnant women in the United States Percentage of cases Drug use 20 Marijuana 16 Cigarette smoking 8.5 Alcohol use (any amount is considered unsafe) 5.9 Illicit drugs Etiology Different substances are associated with NAS. Pathophysiology The pathophysiology of NAS is complex and not clearly understood. Clinical Presentation Presentation […]
Asthma in Children
Introduction and Epidemiology Definition Asthma is defined as the episodic obstruction of lung airways resulting from a chronic inflammatory condition. Classification Epidemiology Etiology and Pathophysiology Etiology Pathophysiology Clinical Presentation History of chronic asthma Physical signs during exacerbations of asthma Diagnosis Management The goal of asthma management is to prevent/minimize symptoms, exacerbations, and functional and psychological […]