PMID- 7645600
OWN - NLM
STAT- MEDLINE
DCOM- 19950921
LR  - 20161123
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 57
IP  - 1
DP  - 1995 May 22
TI  - Mixed sclerosing bone dysplasia, small stature, seizure disorder, and mental 
      retardation: a syndrome?
PG  - 6-9
AB  - We present a 40-year-old man with mental retardation, short stature, minor 
      anomalies, and seizures, who was found to have osteopoikilosis with 
      melorheostosis (mixed sclerosing bone dysplasia, MSBD). Cytogenetic findings of a 
      low level trisomy 8 mosaicism were not confirmed by fluorescence in situ 
      hybridization (FISH) of fibroblast cells. To our knowledge, the association of 
      MSBD and mental retardation has not been previously reported.
FAU - Jurenka, S B
AU  - Jurenka SB
AD  - Department of Medical Genetics, University of British Columbia, Vancouver, 
      Canada.
FAU - Van Allen, M I
AU  - Van Allen MI
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
SB  - IM
MH  - Adult
MH  - Bone Diseases/diagnosis/diagnostic imaging/*genetics
MH  - Chromosomes, Human, Pair 8
MH  - Growth Disorders/diagnosis/*genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Intellectual Disability/diagnosis/*genetics
MH  - Karyotyping
MH  - Male
MH  - Mosaicism
MH  - Radiography
MH  - Syndrome
MH  - Trisomy
EDAT- 1995/05/22 00:00
MHDA- 1995/05/22 00:01
CRDT- 1995/05/22 00:00
PHST- 1995/05/22 00:00 [pubmed]
PHST- 1995/05/22 00:01 [medline]
PHST- 1995/05/22 00:00 [entrez]
AID - 10.1002/ajmg.1320570103 [doi]
PST - ppublish
SO  - Am J Med Genet. 1995 May 22;57(1):6-9. doi: 10.1002/ajmg.1320570103.