Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Homocystinuria history and symptoms
Introduction
Overview
Overview
History and Symptoms
History and Symptoms
- A family history of homocystinuria[1]
- Flush across the cheeks
- Musculoskeletal
- Tall, thin build (resembling Marfanoid habitus)
- Long limbs (dolichostenomelia)
- High-arched feet (pes cavus)
- Knock-knees (genu valgum)
- Pectus excavatum and Pectus carinatum
- Mental retardation
- Seizures
- Psychiatric disease
- Eye anomalies:
- ectopia lentis (downward dislocation)[2] or
subluxation of lens
- Vascular disease
- extensive atheroma formation at young age which affects many arteries but not the coronary arteries
- Intra vascular thrombosis
References
References
- ↑ Maillot F, Kraus JP, Lee PJ (2008). “Environmental influences on familial discordance of phenotype in people with homocystinuria: a case report”. J Med Case Reports. 2 (1): 113. doi:10.1186/1752-1947-2-113. PMC 2377250. PMID 18423051.
- ↑ Peter Nicholas Robinson; Maurice Godfrey (2004). Marfan syndrome: a primer for clinicians and scientists. Springer. pp. 5–. ISBN 978-0-306-48238-0. Retrieved 12 April 2010.
- ↑ Goldman, Lee (2011). Goldman’s Cecil Medicine (24th ed.). Philadelphia: Elsevier Saunders. p. 1362. ISBN 1437727883.
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ayokunle Olubaniyi, M.B,B.S [2]