RT Book, Section
A1 Hay, Jr, William W.
A1 Levin, Myron J.
A1 Deterding, Robin R.
A1 Abzug, Mark J.
SR Print(0)
ID 1145457471
T1 Osteogenesis Imperfecta
T2 Quick Medical Diagnosis & Treatment Pediatrics
YR 2017
FD 2017
PB McGraw-Hill Education
PP New York, NY
SN 9781264257614
LK accesspediatrics.mhmedical.com/content.aspx?aid=1145457471
RD 2024/04/19
AB Rare  genetic  connective  tissue  disease;estimated  incidence  is  1  in  12,000–15,000Characterized  by  multiple  and  recurrent  fracturesThere  are  several  forms  of  osteogenesis  imperfecta,  designated  type  I  to  type  XIITypes  I–V  are  the  result  of  autosomal  dominant  mutationsTypes  VI–XII  are  autosomal  recessiveEach  type  is  associated  with  a  mutation  of  a  different  gene,  varying  levels  of  severity,  and  a  range  of  characteristic  featuresThe  severe  fetal  type  (osteogenesis  imperfecta  congenita)  is  distinguished  by  multiple  intrauterine  or  perinatal  fractures