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. © 2005 Wiley‐Liss, Inc.