Beyond Gómez-López-Hernández syndrome: recurring phenotypic themes in rhombencephalosynapsis.

نویسندگان

  • Hannah M Tully
  • Jennifer C Dempsey
  • Gisele E Ishak
  • Margaret P Adam
  • Cynthia J R Curry
  • Pedro Sanchez-Lara
  • Alasdair Hunter
  • Karen W Gripp
  • Judith Allanson
  • Christopher Cunniff
  • Ian Glass
  • Kathleen J Millen
  • Daniel Doherty
  • William B Dobyns
چکیده

Rhombencephalosynapsis (RES) is an uncommon cerebellar malformation characterized by fusion of the hemispheres without an intervening vermis. Frequently described in association with Gómez-López-Hernández syndrome, RES also occurs in conjunction with VACTERL features and with holoprosencephaly (HPE). We sought to determine the full phenotypic spectrum of RES in a large cohort of patients. Information was obtained through database review, patient questionnaire, radiographic, and morphologic assessment, and statistical analysis. We assessed 53 patients. Thirty-three had alopecia, 3 had trigeminal anesthesia, 14 had VACTERL features, and 2 had HPE with aventriculy. Specific craniofacial features were seen throughout the cohort, but were more common in patients with alopecia. We noted substantial overlap between groups. We conclude that although some distinct subgroups can be delineated, the overlapping features seen in our cohort suggest an underlying spectrum of RES-associated malformations rather than a collection of discrete syndromes.

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عنوان ژورنال:
  • American journal of medical genetics. Part A

دوره 158A 10  شماره 

صفحات  -

تاریخ انتشار 2012