15 terms in pediatrics
Neurogenetic disorder caused by loss of the maternal *UBE3A* gene (15q11–13) due to genomic imprinting; characterized by severe developmenta…
A genetic condition caused by an extra copy of chromosome 21 (trisomy 21), most often due to maternal meiotic nondisjunction. It leads to a …
X-linked recessive dystrophin gene mutation causing absent dystrophin protein and progressive muscle fiber degeneration.
Congenital absence or complete closure of part of the duodenal lumen; causes neonatal intestinal obstruction with a classic double bubble ap…
Paralysis of the arm from injury to the upper trunk (C5–C6) of the brachial plexus; classically presents with a limp, internally-rotated "wa…
Congenital discontinuity of the esophagus (ends in a blind pouch) that prevents swallowed material from reaching the stomach; often accompan…
Severe protein malnutrition in children characterized by bilateral pitting edema and fatty liver (distended abdomen).
Form of severe acute malnutrition from overall calorie deficiency, leading to extreme wasting (loss of muscle and fat) without edema.
Embryonal tumor of the sympathetic nervous system (neural crest origin), usually arising in the adrenal medulla or paraspinal ganglia; most …
Congenital midline abdominal wall defect at the base of the umbilical cord, where abdominal organs (intestine, sometimes liver) herniate out…
Rare pediatric acute encephalopathy with microvesicular fatty liver failure (non-inflammatory), classically triggered by aspirin use during …
Defective mineralization of the growth plates (in children) leading to soft, deformed bones; most often caused by severe vitamin D deficienc…
Retrograde flow of urine from the bladder into the ureters and kidneys due to incompetent ureterovesical junction (UVJ). Primary VUR is usua…
Age-specific epilepsy of infancy defined by a triad: clusters of infantile spasms, an abnormal interictal EEG pattern called hypsarrhythmia,…
Most common pediatric renal malignancy (nephroblastoma) occurring in young children (<5 yo); malignant embryonal tumor arising from metaneph…