Medicine:Smith Martin Dodd syndrome
From HandWiki
| Smith Martin Dodd syndrome | |
|---|---|
| Specialty | Cardiology |
Smith Martin Dodd syndrome is a very rare genetic disorder first described by Smith et al. in 1994.[1] It is characterized by small eyes, a diaphragmatic hernia, and Tetralogy of Fallot, a congenital heart defect.[2][3] The only known case is of a 9-year-old boy with several congenital anomalies including a diaphragmatic hernia, microphthalmia, and Tetralogy of Fallot. It was found that the boy had a reciprocal translocation t(1;15)(q41;q21.2).[4] A congenital diaphragmatic hernia is consistent with chromosome 1q41-q42 deletion syndrome,[5] and the report by Smith et al. suggested that genes involved in the translocation may be important for the development of morphological characteristics, especially those of the eye or heart.[1]
References
- ↑ 1.0 1.1 "Severe microphthalmia, diaphragmatic hernia and Fallot's tetralogy associated with a chromosome 1;15 translocation". Clinical Dysmorphology 3 (4): 287–91. October 1994. doi:10.1097/00019605-199410000-00002. PMID 7894732.
- ↑ "Smith Martin Dodd Syndrome". Check Orphan. http://www.checkorphan.org/disease/smith-martin-dodd-syndrome.
- ↑ "DIAPHRAGMATIC HERNIA, CONGENITAL". Online Medical Inheritance in Man. http://omim.org/entry/142340.
- ↑ "FRYNS SYNDROME; FRNS". Online Medical Inheritance in Man. http://omim.org/entry/229850.
- ↑ "CHROMOSOME 1q41-q42 DELETION SYNDROME". Online Medical Inheritance in Man. http://omim.org/entry/612530.
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