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

Ptosis of eyelids, strabismus, diastasis recti, hip defect, cryptorchidism, and developmental delay in two sibs.

We report a distinct syndrome of eyelid ptosis, convergent strabismus, abdominal muscle defect, hip dislocation, cryptorchidism and developmental delay in two brothers. Consanguinity in their parents suggests autosomal recessive inheritance.[1]

References

  1. Ptosis of eyelids, strabismus, diastasis recti, hip defect, cryptorchidism, and developmental delay in two sibs. Carnevale, F., Krajewska, G., Fischetto, R., Greco, M.G., Bonvino, A. Am. J. Med. Genet. (1989) [Pubmed]
 
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