TY - JOUR
T1 - Beyond Gómez-López-Hernández syndrome
T2 - Recurring phenotypic themes in rhombencephalosynapsis
AU - Tully, Hannah M.
AU - Dempsey, Jennifer C.
AU - Ishak, Gisele E.
AU - Adam, Margaret P.
AU - Curry, Cynthia J.R.
AU - Sanchez-Lara, Pedro
AU - Hunter, Alasdair
AU - Gripp, Karen W.
AU - Allanson, Judith
AU - Cunniff, Christopher
AU - Glass, Ian
AU - Millen, Kathleen J.
AU - Doherty, Daniel
AU - Dobyns, William B.
PY - 2012/10
Y1 - 2012/10
N2 - 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.
AB - 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.
KW - Aventriculy
KW - Congenital triangular alopecia
KW - Developmental field defect
KW - Gómez-López-Hernández syndrome
KW - Holoprosencephaly
KW - Rhombencephalosynapsis
KW - VACTERL
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UR - http://www.scopus.com/inward/citedby.url?scp=84866508735&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.35561
DO - 10.1002/ajmg.a.35561
M3 - Article
C2 - 22965664
AN - SCOPUS:84866508735
SN - 1552-4825
VL - 158 A
SP - 2393
EP - 2406
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 10
ER -