Smith Martin Dodd syndrome

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. 1 2 Smith SA, Martin KE, Dodd KL, Young ID (October 1994). "Severe microphthalmia, diaphragmatic hernia and Fallot's tetralogy associated with a chromosome 1;15 translocation". Clinical Dysmorphology. 3 (4): 287–91. doi:10.1097/00019605-199410000-00002. PMID 7894732.
  2. ↑ "Smith Martin Dodd Syndrome". Check Orphan. Retrieved 2011-10-31.
  3. ↑ "DIAPHRAGMATIC HERNIA, CONGENITAL". Online Medical Inheritance in Man. Retrieved 2011-10-31.
  4. ↑ "FRYNS SYNDROME; FRNS". Online Medical Inheritance in Man. Retrieved 2011-10-31.
  5. ↑ "CHROMOSOME 1q41-q42 DELETION SYNDROME". Online Medical Inheritance in Man. Retrieved 2011-10-31.


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