In esophageal rupture, V-shaped collection of air along mediastinum and diaphragm.
In roseola, erythematous papules on the soft palate and uvula.
Method for estimating date of delivery by counting back 3 months from the first day of the last menstrual period and adding seven days; full term 38 weeks after fertilization, 40 weeks after last menstrual period.
In relapsing pancreatitis, narcotic-induced stimulation or spasm reproducing abdominal pain and amylase elevation (for inferring sphincteric disease in any pancreatic or biliary ductal system without a gallbladder), presumably accurate in the diagnosis of perisphincteric disease.
Mucopolysaccharidosis type IX, from hyaluronidase deficiency. Characterized by short stature and multiple soft tissue masses around joints. Described by Natowicz in 1996.
Initially described on Greek island of Naxos, syndrome of arrhythmogenic right ventricular cardiomyopathy, non-epidermolytic palmoplantar keratoderma, and woolly hair, due to deletion in plakoglobin, protein in adherens and desmosomal junctions.
In shoulder impingement, forcibly flexing the arm to an overhead position to produce pain from impingement of humerus against coracoacromial arch.
In rabies virus-infected brain neurons, eosinophilic cytoplasmic inclusions.
Enlargement of a pituitary adenoma in a patient with Cushing's disease whose adrenals have been removed; from loss of feedback inhibition of cortisol.
Autosomal recessive syndrome characterized by severe intrauterine growth retardation, microcephaly, abnormal brain development, edema, and icthyosis. First reported in 1971 by Neu et al. (Pediatrics 47;610-612).
Congenital immunodeficiency syndrome, autosomal recessive, due to thymic dysplasia.
Livedo-like dermatitis from acute arterial thrombosis occurring immediately after intravascular injection of an insoluble drug substance.
A sphingolipidosis where there is lysosomal accumulation of sphingomyelin and cholesterol, type A and B (deficiency of sphingomyelin-cleaving enzyme sphingomyelinase) and type C and D (enzyme normal or nearly normal, defect in esterification and transport); type A, 75-80% of all cases, extensive neurologic involvement, marked visceral accumulations of sphingomyelin, and progressive wasting and early death within the first 3 years of life); half have cherry red spot in macula as in Tay-Sachs disease.
See kabuki syndrome.
Primary immunodeficiency autosomal recessive disorder that presents as microcephaly, a distinctive "bird-like" facies, growth retardation, recurrent pulmonary infections, chromosomal instability, radiation hypersensitivity, and increased incidence of malignancies, especially lymphomas from mutation in nibrin protein, a protein involved in DNA repair; cellular defect similar to ataxia-telangiectasia.
Procedure for patients born with a combination of transposition of the great arteries, ventricular septal defect, and pulmonary stenosis. In contrast with the Rastelli procedure, the Nikaidoh procedure creates a more "anatomically correct" left ventricular outflow tract. Also known as aortic translocation and biventricular outflow tract reconstruction.
Associated with pemphigus vulgaris; apparently normal epidermis next to blister may be separated at the basal layer and rubbed off when pressed with a sliding motion. See also Asboe-Hansen sign.
For treating gastroesophageal reflux disease, surrounding lower end of esophagus with cuff of gastric fundal muscle to increase lower esophageal sphincter competence.
In neurons, rough endoplasmic reticulum.
Stains for cell bodies; dye binds to acid groups, in particular the RNAs of the ribosomes located within the cell body. Described by Franz Nissl, German medical student at time.
Turner's phenotypic characteristics without any sex chromosome abnormalities, males or females with congenital heart defect (usually pulmonic stenosis and hypertrophic cardiomyopathy), pectus carinatum, short stature, mild mental retardation, hypertelorism, and webbed neck; autosomal dominant; associated with mutation in nonreceptor protein tyrosine phosphatase SHP2 (PTPN11). Most common non-chromosomal cause of congenital heart disease.
GM1 gangliosidosis, a lysosomal storage disorder.
X-linked disorder associated with very early childhood blindness due to degenerative changes of the retina; associated with mental retardation and psychotic-like features; due to mutation in gene encoding norrin.
Norovirus; calcivirus associated with gastroenteritis; named after outbreak in a school in Norwalk, Ohio in 1969.
Crusted scabies, highly contagious, psoriaform dermatosis of the hands and feet with dystrophy of the nails and an erythematous scaling eruption that may be generalized; itching minimal; seen in institutionalized patients, mentally retarded, and in patients with HIV, HTLV-1, or adult T cell leukemia. Initially described in Norwegian patients with leprosy in 1840s.
For treating hypoplastic left heart syndrome, anastomosis of proximal main pulmonary artery to aorta, with aortic arch reconstruction and transection and patch closure of distal main pulmonary artery; modified right Blalock-Taussig shunt (subclavian artery to right PA) to provide pulmonary blood flow. ASD created to allow for adequate left to right flow. See also Glenn shunt and Fontan procedure as subsequent stages.
Injury to superior cerebellar peduncle causing ipsilateral oculomotor palsy and contralateral cerebellar ataxia.
Eponyms 
Ingrown toenail
Nematocysts
Cryptitis
Vascular ring
Vesiculobullous rashes
Black hairy tongue
Abscess