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 M Cunniff, Ian Glass, Kathleen J. Millen, Daniel Doherty, William B. Dobyns

Research output: Contribution to journalArticle

19 Citations (Scopus)

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

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Alopecia
Holoprosencephaly
Anesthesia
Databases
Surveys and Questionnaires
Holoprosencephaly 2

Keywords

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

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Tully, H. M., Dempsey, J. C., Ishak, G. E., Adam, M. P., Curry, C. J. R., Sanchez-Lara, P., ... 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

Beyond Gómez-López-Hernández syndrome : Recurring phenotypic themes in rhombencephalosynapsis. / Tully, Hannah M.; Dempsey, Jennifer C.; Ishak, Gisele E.; Adam, Margaret P.; Curry, Cynthia J R; Sanchez-Lara, Pedro; Hunter, Alasdair; Gripp, Karen W.; Allanson, Judith; Cunniff, Christopher M; Glass, Ian; Millen, Kathleen J.; Doherty, Daniel; Dobyns, William B.

In: American Journal of Medical Genetics, Part A, Vol. 158 A, No. 10, 10.2012, p. 2393-2406.

Research output: Contribution to journalArticle

Tully, HM, Dempsey, JC, Ishak, GE, Adam, MP, Curry, CJR, Sanchez-Lara, P, Hunter, A, Gripp, KW, Allanson, J, Cunniff, CM, Glass, I, Millen, KJ, Doherty, D & Dobyns, WB 2012, 'Beyond Gómez-López-Hernández syndrome: Recurring phenotypic themes in rhombencephalosynapsis', American Journal of Medical Genetics, Part A, vol. 158 A, no. 10, pp. 2393-2406. https://doi.org/10.1002/ajmg.a.35561
Tully, Hannah M. ; Dempsey, Jennifer C. ; Ishak, Gisele E. ; Adam, Margaret P. ; Curry, Cynthia J R ; Sanchez-Lara, Pedro ; Hunter, Alasdair ; Gripp, Karen W. ; Allanson, Judith ; Cunniff, Christopher M ; Glass, Ian ; Millen, Kathleen J. ; Doherty, Daniel ; Dobyns, William B. / Beyond Gómez-López-Hernández syndrome : Recurring phenotypic themes in rhombencephalosynapsis. In: American Journal of Medical Genetics, Part A. 2012 ; Vol. 158 A, No. 10. pp. 2393-2406.
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