Cerebello-trigeminal-dermal dysplasia (Gómez-López-Hernández syndrome): description of three new cases and review.
Cerebello-trigemino-dermal "dysplasia" is a rare neurocutaneous syndrome of craniosynostosis, ataxia, trigeminal anesthesia, scalp alopecia, cerebellar anomaly, midface hypoplasia, corneal opacities, apparently low-set ears, mental retardation, and short stature. It seems to be a sporadic condition but little is known about its cause and pathogenesis in the few cases reported so far. We present three new unrelated patients and magnetic resonance images of the central nervous system, and review the four cases reported previously. We think that this is not such a rare condition, and that it is underdiagnosed.
Muñoz R
M V
MV
Department of Genetics, Faculty of Medicine of Ribeirão Preto, University of São Paulo, Brazil.
Santos
A C
AC
Graziadio
C
C
Pina-Neto
J M
JM
D000015:Abnormalities, Multiple; D000505:Alopecia / Q000235:genetics; D002524:Cerebellar Ataxia / Q000235:genetics; D019465:Craniofacial Abnormalities / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D012249:Rhombencephalon / Q000002:abnormalities; D012867:Skin / Q000473:pathology; D012868:Skin Abnormalities; D013577:Syndrome