TY - JOUR
T1 - Gomez-Lopez-Hernandez syndrome
T2 - Expansion of the phenotype
AU - Brocks, Daniel
AU - Irons, Mira
AU - Sadeghi-Najad, Ab
AU - McCauley, Roy
AU - Wheeler, Patricia
N1 - Copyright:
Copyright 2007 Elsevier B.V., All rights reserved.
PY - 2000/10/23
Y1 - 2000/10/23
N2 - Gomez-Lopez-Hernandez syndrome (cerebello-trigeminal-dermal dysplasia) is a condition that includes abnormalities of the cerebellum (rhombencephalosynapsis), cranial nerves (trigeminal anesthesia), and scalp (alopecia). Seven patients with this condition have been documented since 1979. We now report a male with Gomez-Lopez-Hernandez syndrome who, at the age of 19 years, is the oldest patient identified to date. He has been followed since birth, allowing us to report on the progression of his physical findings and psychiatric problems including hyperactivity, depression, self-injurious behavior and bipolar disorder. In addition, he has short stature and growth hormone deficiency.(C) 2000 Wiley-Liss, Inc.
AB - Gomez-Lopez-Hernandez syndrome (cerebello-trigeminal-dermal dysplasia) is a condition that includes abnormalities of the cerebellum (rhombencephalosynapsis), cranial nerves (trigeminal anesthesia), and scalp (alopecia). Seven patients with this condition have been documented since 1979. We now report a male with Gomez-Lopez-Hernandez syndrome who, at the age of 19 years, is the oldest patient identified to date. He has been followed since birth, allowing us to report on the progression of his physical findings and psychiatric problems including hyperactivity, depression, self-injurious behavior and bipolar disorder. In addition, he has short stature and growth hormone deficiency.(C) 2000 Wiley-Liss, Inc.
KW - Bipolar disorder
KW - Cerebello-trigeminal-dermal dysplasia
KW - Depression
KW - Growth hormone
KW - Hyperactivity
KW - Self-injurious behavior
UR - http://www.scopus.com/inward/record.url?scp=0034706399&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0034706399&partnerID=8YFLogxK
U2 - 10.1002/1096-8628(20001023)94:5<405::AID-AJMG12>3.0.CO;2-8
DO - 10.1002/1096-8628(20001023)94:5<405::AID-AJMG12>3.0.CO;2-8
M3 - Article
C2 - 11050627
AN - SCOPUS:0034706399
VL - 94
SP - 405
EP - 408
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 5
ER -