TY  - CHAP
M1  - Book, Section
TI  - Craniosynostosis Syndromes
A1  - Muenke, Maximilian
A1  - Wilkie, Andrew O. M.
A2  - Valle, David L.
A2  - Antonarakis, Stylianos
A2  - Ballabio, Andrea
A2  - Beaudet, Arthur L.
A2  - Mitchell, Grant A.
Y1  - 2019
N1  - 10.1036/ommbid.285
T2  - The Online Metabolic and Molecular Bases of Inherited Disease
AB  - Craniosynostosis,  the  premature  fusion  of  one  or  several  sutures  of  the  skull,  is  one  of  the  commonest  craniofacial  anomalies  at  birth  with  a  prevalence  of  1  in  2100  to  3000.  The  shape  of  the  skull  is  altered  depending  on  which  of  the  sutures  are  fused  prematurely.The  etiology  of  craniosynostosis  is  heterogeneous.  Isolated  occurrence  with  unknown  etiology  is  common,  mostly  affecting  the  sagittal  suture.  Syndromic  craniosynostosis  has  been  described  in  over  100  syndromes  which  have  been  delineated  based  on  the  suture  involvement  (most  commonly  the  coronal  sutures),  craniofacial  anomalies,  associated  limb  and  other  organ  system  involvement,  and  inheritance  pattern  (autosomal  dominant  and  recessive,  and  X-linked).  The  clinical  features  of  27  of  the  most  distinct  and  important  clinical  entities  associated  with  craniosynostosis  are  tabulated.The  classical  craniosynostosis  syndromes  are  inherited  in  an  autosomal  dominant  fashion  and  include  Apert  (MIM  101200),  Pfeiffer  (MIM  101600),  Saethre-Chotzen  (MIM  101400),  and  Crouzon  (MIM  123500)  syndromes.  They  were  originally  described  as  separate  clinical  entities  with  Apert  and  sporadic  Pfeiffer  syndrome  generally  tending  to  be  more  severe  than  Crouzon  and  Saethre-Chotzen  syndrome.Recently,  the  molecular  bases  of  these  classical  disorders,  a  new  common  craniosynostosis  syndrome  (Muenke  syndrome  (MIM  134934)),  and  several  of  the  rare  craniosynostosis  syndromes  have  been  identified.  Pfeiffer  syndrome  is  heterogeneous  and  due  to  heterozygous  mutations  in  fibroblast  growth  factor  receptor  (FGFR)  genes  1  and  2.  Heterozygous  mutations  in  FGFR2  also  cause  Apert,  Crouzon,  Jackson-Weiss  (MIM  123150),  and  Beare-Stevenson  (MIM  123790)  syndromes.  Muenke  syndrome  was  newly  defined  by  a  specific  mutation  in  FGFR3,  which  corresponds  to  an  amino  acid  substitution  equivalent  to  one  change  in  Apert  syndrome  in  FGFR2  and  in  Pfeiffer  syndrome  in  FGFR1.  Crouzon  syndrome  with  acanthosis  nigricans  is  due  to  a  mutation  in  FGFR3.  Cytogenetic  deletions  and  translocations  involving  7p21.1  and  various  heterozygous  mutations  in  the  human/mouse  gene  symbols  for  a  transcription  factor  originally  named  in  Drosophila.  (TWIST)  gene,  which  maps  to  this  region,  cause  Saethre-Chotzen  syndrome.  A  missense  mutation  of  the  fibrillin-1  (FBN1)  gene  was  identified  in  a  single  patient  with  Shprintzen-Goldberg  syndrome  (MIM  182212),  which  is  probably  genetically  heterozygous.  Lastly,  a  specific  heterozygous  mutation  in  the  human/mouse  gene  symbols  for  the  MSH  (MSX2)(Drosophila)  homeobox  homolog  2  (MSX2)  gene,  which  has  only  been  observed  in  a  single  family,  causes  Boston-type  craniosynostosis  (MIM  123101),  the  first  craniosynostosis  syndrome  in  which  the  genetic  etiology  was  identified.The  diagnosis  of  craniosynostosis  syndromes  is  by  clinical  examination  aided  by  radiographic  imaging  of  the  skull,  hands,  and  feet.  Mutation  analysis  has  enabled  refinement  of  this  classification  by  highlighting  the  etiologic  similarities  of  some  disorders  (for  example,  Crouzon  and  Pfeiffer  syndromes  due  to  mutations  of  FGFR2),  whilst  clinically  similar  phenotypes  can  result  from  mutations  in  different  genes  (for  example  FGFR3  and  TWIST).  Molecular  analysis  also  enables  the  identification  of  mildly  affected  carrier  parents  as  well  as  early  prenatal  diagnosis.Treatment  consists  of  craniofacial  surgery  and  neurosurgery,  and  surgical  correction  of  anomalies  of  the  hands  and  feet.  Anomalies  in  other  organ  systems  (e.g.,  respiratory  difficulties  and  others)  are  treated  system  by  system.The  pattern  of  mutations  in  FGFR1,  FGFR2,  and  FGFR3,  which  encode  related  transmembrane  receptor  ...
SN  - 
PB  - McGraw-Hill Education
CY  - New York, NY
M3  - doi: 10.1036/ommbid.285
Y2  - 2024/04/19
UR  - ommbid.mhmedical.com/content.aspx?aid=1184072055
ER  -