| Patau's syndrome | <embryology, paediatrics, syndrome> A congenital disorder caused by a person having an extra (three copies of) chromosome 13, this disorder causes severe eye, brain and heart defects and is also characterised by a cleft lip and cleft palate. See: trisomy 13 syndrome (09 Oct 1997) |
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| Reifenstein's syndrome | <syndrome> Partial androgen sensitivity; a familial form of male pseudohermaphroditism characterised by varying degrees of ambiguous genitalia or hypospadias, postpubertal development of gynaecomastia, and infertility associated with seminiferous tubular sclerosis; cryptorchidism may be present, and Leydig cell hypofunction may lead to impotence in later years; chromosomal studies are usually normal; X-linked recessive or autosomal dominant male-linked trait. (05 Mar 2000) |
| Paterson-Brown-Kelly syndrome | <syndrome> Limited elevation of the eye in adduction, appearing clinically as a paresis of the inferior oblique muscle, due to fascia contracting the superior oblique muscle on the same side. Synonym: Brown's syndrome, Paterson-Brown-Kelly syndrome. (05 Mar 2000) |
| Paterson-Kelly syndrome | <radiology> Iron-deficiency anaemia, oesophageal webs (symptomatic), glossitis, spoon nails, middle-aged females, increased incidence of oesophageal carcinoma, see also: oesophageal webs and rings aka: Patterson-Kelly syndrome (12 Dec 1998) |
| meckel-gruber syndrome | <radiology> Encephalocele, multiple renal cysts (12 Dec 1998) |
| Reiter's syndrome | <syndrome> The combination of arthritis, conjunctivitis and urethritis (occasionally diarrhoea). Occurs mainly in young men. (27 Sep 1997) |
| reiter syndrome | <radiology> Males, associated with GC ??, polyarthritis, feet (Launois deformity ??), SI joints, knees / ankles (joint effusions), urethritis, uveitis / conjunctivitis (12 Dec 1998) |
| Meckel syndrome | A malformation syndrome, lethal in the perinatal period, and characterised by intrauterine growth retardation, sloping forehead, occipital exencephalocele, ocular anomalies, cleft palate, polydactyly, polycystic kidney, and other malformations; autosomal recessive inheritance. Synonym: Meckel syndrome, Meckel-Gruber syndrome. (05 Mar 2000) |
| virus-associated haemophagocytic syndrome | <syndrome> A syndrome closely resembling malignant histiocytosis but potentially reversible, following a herpes group virus infection such as by the Epstein-Barr virus. (05 Mar 2000) |
| meconium aspiration syndrome | <radiology> Intra-uterine foetal distress most likely to be defecation of meconium, term and post-term neonates, not preemies, not kids of diabetic moms, diffuse HYPERaeration, pulmonary interstitial emphysema (PIE), pnuemomediastinum and non-tension ptx in 33%, patchy atelectasis and consolidation, lung disease usually resolves spontaneously, morbidity due to intrauterine cerebral anoxia (12 Dec 1998) |
| meconium blockage syndrome | <syndrome> Low intestinal obstruction in newborn infants resulting from blockage of meconium. (05 Mar 2000) |
| Ceelen-Gellerstedt syndrome | <chest medicine> A rare, sporadic, fatal, mostly in children with an equal sex distribution. The condition also occurs in adults where there is a sex difference (M:F = 2:1). The patients present with recurrent attacks of pulmonary haemorrhage, acute phase: bat-wing alveolar infiltrates, clears rapidly, chronic findings: haemosiderosis, pulmonary fibrosis, cor pulmonale. (12 Dec 1998) |
| REM syndrome | <syndrome> A reticular erythematous dermatitis of the upper trunk, more common in women, in which there is perivascular infiltrate of lymphocytes, few plasma cells, and upper dermal deposits of mucin; worsens on exposure to ultraviolet light. Synonym: reticular erythematous mucinosis. (05 Mar 2000) |
| glucagonoma syndrome | <syndrome> Necrolytic migratory erythema or intertriginous and periorificial dermatitis, stomatitis, anaemia, weight loss, and hyperglycaemia resulting from glucagon-secreting pancreatic islet cell tumours. (05 Mar 2000) |
| Rendu-Osler-Weber syndrome | <gastroenterology> An inherited disease characterised by thin blood vessel walls in the nose, skin and gastrointestinal tract. This condition ins associated with a high risk of bleeding complications. Inheritance: autosomal dominant. (27 Sep 1997) |