TY - JOUR
T1 - Neurological involvement in a child with the wrinkly skin syndrome
AU - Azuri, Joseph
AU - Mizrachi, Avraham
AU - Weintraub, Shlomo
AU - Lerman-Sagie, Tally
PY - 1999/1/1
Y1 - 1999/1/1
N2 - In 1973, a syndrome was reported comprising of wrinkled skin over the dorsum of hands, feet, and abdomen, reduced skin elasticity, skeletal involvement, craniofacial anomalies, mental and developmental delay, and failure to thrive. Only nine cases have been reported. Three additional cases with deletion 2q32 show some manifestations of this syndrome. We present another child with this syndrome with prominent neurological involvement manifested by mental retardation, microcephaly, and an episode of status epilepticus.
AB - In 1973, a syndrome was reported comprising of wrinkled skin over the dorsum of hands, feet, and abdomen, reduced skin elasticity, skeletal involvement, craniofacial anomalies, mental and developmental delay, and failure to thrive. Only nine cases have been reported. Three additional cases with deletion 2q32 show some manifestations of this syndrome. We present another child with this syndrome with prominent neurological involvement manifested by mental retardation, microcephaly, and an episode of status epilepticus.
KW - Elastic fibers
KW - Failure to thrive
KW - Microcephaly
KW - Status epilepticus
KW - Wrinkly skin syndrome
UR - http://www.scopus.com/inward/record.url?scp=0032944144&partnerID=8YFLogxK
U2 - 10.1002/(SICI)1096-8628(19990101)82:1<31::AID-AJMG6>3.0.CO;2-W
DO - 10.1002/(SICI)1096-8628(19990101)82:1<31::AID-AJMG6>3.0.CO;2-W
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C2 - 9916839
AN - SCOPUS:0032944144
SN - 0148-7299
VL - 82
SP - 31
EP - 33
JO - American Journal of Medical Genetics
JF - American Journal of Medical Genetics
IS - 1
ER -