Abstract |
Gomez-Lopez-Hernandez syndrome, or cerebello-trigeminal-dermal dysplasia (OMIM#601853), is a rare syndrome comprising cerebellar abnormalities, parieto-occipital alopecia, trigeminal nerve anesthesia, intellectual impairment, craniosynostosis, short stature, and craniofacial anomalies. It has been reported in ten patients, five of whom are Brazilian. Rhombencephalosynapsis is a rare sporadic cerebellar anomaly comprising fusion of the cerebellar hemispheres with agenesis of the cerebellar vermis. Rhombencephalosynapsis is a constant feature of Gomez-Lopez-Hernandez syndrome. We present the clinical and imaging findings of a Caucasian male infant with Gomez-Lopez-Hernandez syndrome. Rhombencephalosynapsis was diagnosed with fetal magnetic resonance imaging (MRI) after an abnormally shaped small cerebellum was detected by antenatal ultrasound (US). Gomez-Lopez-Hernandez syndrome was diagnosed at age 6 weeks when parietal alopecia was noted. Prenatal imaging studies of Gomez-Lopez-Hernandez syndrome have not been published before. When rhombencephalosynapsis is diagnosed prenatally, the clinical features of Gomez-Lopez-Hernandez syndrome should be sought at postnatal review. Gomez-Lopez-Hernandez syndrome and isolated rhombencephalosynapsis may have a common etiology.
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Authors | Tiong Yang Tan, George McGillivray, Stacy K Goergen, Susan M White |
Journal | American journal of medical genetics. Part A
(Am J Med Genet A)
Vol. 138
Issue 4
Pg. 369-73
(Nov 01 2005)
ISSN: 1552-4825 [Print] United States |
PMID | 16158443
(Publication Type: Case Reports, Journal Article, Review)
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Copyright | Copyright 2005 Wiley-Liss, Inc |
Topics |
- Abnormalities, Multiple
(pathology)
- Female
- Humans
- Infant, Newborn
- Magnetic Resonance Imaging
(methods)
- Syndrome
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