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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 
 

A novel syndrome involving primary skeletal growth and retardation in siblings.

An identical pattern of malformations was found in two brothers both having microcephaly and severe developmental delay. Additionally, they had hypotelorism, epicanthic folds, and convergent strabismus. There was shortening of either the radius or the tibia and shortening of the first metacarpals. Persistently dorsally flexed fingers and toes were noted, all of which are unusually long. Both boys had a high-pitched voice and were unable to communicate verbally at the age of 4.5 years. They both developed short stature. One brother has anal atresia; the other had a pulmonary artery atresia, VSD, ASD, and an over-riding aorta. This apparently new syndrome is possibly an autosomal, or a X-linked recessive trait.[1]

References

  1. A novel syndrome involving primary skeletal growth and retardation in siblings. Hadziselimovic, F., Fliegel, C.H., Miny, P. Clin. Dysmorphol. (2001) [Pubmed]
 
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