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

• Published in: American journal of medical genetics. Part A Vol. 158A; no. 10; pp. 2393 - 2406
• Main Authors: 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, Glass, Ian, Millen, Kathleen J., Doherty, Daniel, Dobyns, William B.
• Format: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 01.10.2012; Wiley-Liss; Wiley Subscription Services, Inc
• Subjects: Abnormalities, Multiple - pathology; Adolescent; Adult; Alopecia - pathology; Anal Canal - abnormalities; Anal Canal - pathology; aventriculy; Biological and medical sciences; Cerebellar Diseases - pathology; Cerebellum - abnormalities; Cerebellum - pathology; Child; Child, Preschool; Complex syndromes; congenital triangular alopecia; Craniofacial Abnormalities - pathology; Dermatology; developmental field defect; Esophagus - abnormalities; Esophagus - pathology; Female; Growth Disorders - pathology; Gómez-López-Hernández syndrome; Hair and nails disorders; Heart Defects, Congenital - pathology; holoprosencephaly; Holoprosencephaly - pathology; Humans; Infant; Infant, Newborn; Kidney - abnormalities; Kidney - pathology; Limb Deformities, Congenital - pathology; Male; Malformations of the nervous system; Medical genetics; Medical sciences; Neurocutaneous Syndromes - pathology; Neurology; Phenotype; Rhombencephalon - abnormalities; Rhombencephalon - pathology; rhombencephalosynapsis; Spine - abnormalities; Spine - pathology; Trachea - abnormalities; Trachea - pathology; VACTERL; Young Adult; Hair; Arhinencephaly; Skin disease; Nervous system diseases; Respiratory disease; Diseases of the osteoarticular system; developmental field defect; holoprosencephaly; Congenital disease; rhombencephalosynapsis; Cerebral disorder; Phenotype; Alopecia; Gomez-Lopez-Hernandez syndrome; Malformation; Central nervous system disease; aventriculy; congenital triangular alopecia; Digestive diseases; VACTERL; Complex syndrome; Vater syndrome
• ISSN: 1552-4825; 1552-4833
• DOI: 10.1002/ajmg.a.35561

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. © 2012 Wiley Periodicals, Inc.