Osgood-Schlatter Disease
Overview Definition Osgood-Schlatter disease is an apophysitis, a painful traction injury, of the cartilage and bone on the anterior, proximal tibial tubercle, where the distal patella tendon inserts. Epidemiology Occurs in children 10–14 years of age: Boys: 12–14 years Girls: 10–13 years More common in teens who participate in sports that involve running or jumping […]
Atrial Septal Defect (ASD)
Overview Definition Atrial septal defect (ASD) is a communication between the right atrium (RA) and the left atrium (LA) secondary to a defect in the development of the atrial septum during embryogenesis. Atrial septal defect is usually a benign condition and is classified as an acyanotic congenital heart disease (CHD). Classification Atrial septal defects are […]
Transposition of the Great Vessels
Overview Definition Transposition of the great vessels (TGV) is the switching of the origins of the great vessels whereby the aorta arises from the right ventricle and the pulmonary artery arises from the left ventricle. Epidemiology 3% of all cases of congenital heart disease and 20% of cyanotic congenital heart disease Prevalence: approximately 4 in […]
Chiari Malformations
Overview Definition Chiari malformations (CMs) are a group of disorders defined by structural deficits in the brain and spinal cord leading to limited space in the posterior fossa, which forces cerebellar structures to protrude through the foramen magnum. Classification Epidemiology Incidence: Associated conditions: Etiology and Pathophysiology Etiology Pathophysiology Neurologic symptoms are caused by: Clinical Presentation […]
Tetralogy of Fallot
Overview Definition Tetralogy of Fallot (TOF) is the most common cyanotic congenital heart disease and has the following 4 (tetra) features: Right ventricular outflow obstruction (pulmonary stenosis (PS)) Interventricular communication (ventricular septal defect (VSD)) Concentric right ventricular hypertrophy (RVH) Overriding aorta (over the VSD) Epidemiology 7%–10% of congenital heart defects Most common cyanotic congenital heart […]
Osteogenesis Imperfecta
Overview Definition Osteogenesis imperfecta (OI) is an inherited connective tissue disorder characterized by impaired bone formation and severe bone fragility. Epidemiology Etiology Table: Major pathologic mutations, modes of inheritance, and phenotypes for OI types I-IV Type I Type II Type III Type IV Mutated gene COL1A1, COL1A2 (collagen type 1 alpha 1 and 2 chains) […]
Laryngomalacia and Tracheomalacia
Overview Definitions Laryngomalacia is softening of or redundancy of supraglottic structures leading to collapse and narrowing of the airway during inspiration. Tracheomalacia is an abnormality in tracheal compliance caused by a variety of factors, resulting in the dynamic airway narrowing. Epidemiology Laryngomalacia: Most common congenital laryngeal abnormality Estimated incidence 1 in 2,600 children 45%–75% of […]
Delayed Puberty
Overview Definitions Epidemiology Etiology Delayed puberty is most commonly a constitutional growth delay or normal variant in child development. When hypogonadism is the cause of delayed puberty, it can be central or gonadal in origin. Causes of hypogonadism: Clinical Presentation History Physical examination Tanner staging in girls: Tanner staging in boys: Diagnosis Clinical findings and […]
Scarlet Fever
Overview Definition Scarlet fever (also called “scarlatina”) is a diffuse erythematous eruption or rash that occurs in association with pharyngitis. Epidemiology Occurs in children > adults: Children 5–15 years of age represent the majority of cases. Peak incidence: winter and spring in temperate climates Develops in < 10% of streptococcal throat infection Has become uncommon […]
Craniosynostosis
Definitions and Epidemiology Definitions Craniosynostosis: premature fusion of 1 ⩲ cranial sutures, causing an abnormal shaping of the skull Scaphocephaly: elongated skull with frontal bossing, often due to fusion of sagittal sutures Plagiocephaly: flattening of half of the forehead with raising of ipsilateral eyebrow due to unilateral coronal suture fusion Trigonocephaly: triangular-shaped forehead with prominent […]