Beyond Gómez-López-Hernández syndrome: Recurring phenotypic themes in rhombencephalosynapsis

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

Research output: Contribution to journalArticle

25 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)2393-2406
Number of pages14
JournalAmerican Journal of Medical Genetics, Part A
Volume158 A
Issue number10
DOIs
StatePublished - Oct 2012

Keywords

  • Aventriculy
  • Congenital triangular alopecia
  • Developmental field defect
  • Gómez-López-Hernández syndrome
  • Holoprosencephaly
  • Rhombencephalosynapsis
  • VACTERL

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Tully, H. M., Dempsey, J. C., Ishak, G. E., Adam, M. P., Curry, C. J. R., Sanchez-Lara, P., Hunter, A., Gripp, K. W., Allanson, J., Cunniff, C., Glass, I., Millen, K. J., Doherty, D., & Dobyns, W. B. (2012). Beyond Gómez-López-Hernández syndrome: Recurring phenotypic themes in rhombencephalosynapsis. American Journal of Medical Genetics, Part A, 158 A(10), 2393-2406. https://doi.org/10.1002/ajmg.a.35561