Congenital malformations - Edocr

84 PART II CENTRAL NERVOUS SYSTEM MALFORMATIONS
TABLE 12-1 Craniosynostosis Syndromes Associated with Mutations in FGFR and TWIST1 Genes
Mutation
Sutures
Detection
Disorder Involved Other Features Gene Rate
Muenke syndrome Unilateral or Some family members FGFR3 100%
bilateral
may have macrocephaly
coronal
only without
craniosynostosis
Crouzon syndrome Bicoronal or No extracranial manifestations; FGFR2 50–60%
cloverleaf difficult to distinguish from
skull
isolated coronal
craniosynostosis in absence
of a family history. Progressive
hydrocephalus is common.
Crouzon syndrome Bicoronal or Acanthosis nigricans FGFR3 100%
with acanthosis cloverleaf
nigricans
skull
Jackson-Weiss Bicoronal or Broad and medially deviated FGFR2 Unknown
syndrome cloverleaf great toes with normal hands
skull
Apert syndrome Bicoronal or Syndactyly both hands and both FGFR2 99%
cloverleaf feet; cardiac defects in 10%;
skull
mental retardation more
common than in most of
the other forms of
craniosynostosis (50%)
Pfeiffer syndrome Bicoronal or Broad, medially deviated thumbs FGFR1 67%
cloverleaf and great toes; variable ((1–2%)
skull syndactyly and brachydactyly. FGFR2
(98–99%)
Beare-Stevenson Bicoronal or Cutis gyrata and acanthosis FGFR2 Unknown
syndrome cloverleaf nigricans; abnormal ears;
skull
natal teeth; bifid scrotum
Isolated familial Unilateral or None FGFR2 100%
coronal
bilateral
synostosis coronal
Saethre-Chotzen Unilateral or Minor dysmorphic facial TWIST1 70%
syndrome bilateral features including ptosis;
coronal
ear anomalies; cleft palate;
common but cutaneous syndactyly;
ANY sutures brachydactyly
can be involved
including
sagittal