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Prenatal magnetic resonance imaging in Gomez‐Lopez‐Hernandez syndrome and review of the literature
Author(s) -
Tan Tiong Yang,
McGillivray George,
Goergen Stacy K.,
White Susan M.
Publication year - 2005
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30967
Subject(s) - cerebellar vermis , agenesis , medicine , magnetic resonance imaging , microcephaly , short stature , joubert syndrome , anatomy , cerebellum , pediatrics , radiology , biology , cilium , microbiology and biotechnology
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.