Homocystinuria history and symptoms
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ayokunle Olubaniyi, M.B,B.S [2]
Overview
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
- ↑ 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.