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Neurofibromatosis type I (NF1) (OMIM, 162200) and Legius
syndrome (OMIM, 611431) both have multiple café au lait spots. It is a challenge
to differentiate the two diseases. Here we report a Legius syndrome-like
patient who finally was identified as NF1 with a novel mutation in NF1 exon1 (c.55G > T). The mutation
caused a substitution of a glutamic acid (GAG) with a terminator codon (TAG). For those patients with only
multiple café au lait macules, axillary and inguinal freckling, but
without any other clinical signs in NF1 and Legius syndrome, a gene testing is
necessary to give a final diagnose. We suggested to use “Neurofibromatosis
type 1—like syndrome”
to describe those patients just like our patient reported here.
A unit cell geometrical structure was found with the use of symmetry operations corresponding to the point group C3. Based on the symmetry of space group R3, a 3D braided geometrical structure was obtained by transforming the unit-cell. The features corresponding to this braided structure were studied. The fiber volume percentage and variational tendencies of the material were predicted by establishing a geometric model.