craniofacial syndromes Flashcards
how is cruzon’s transmitted
autosomal dominant and new mutatuion with increased parental age.
common feature of cruzon
retruded maxila
beaky nose
brachycephaly (bicoronal)
exo-orbitism
extracranial manifestation fo cruzons
cervical vertebra fusion
ankylosis -elbow
genetic subtype with athancosis nigricans
which have normal intelligence- apert or cruzon
cruzon only 3% with issues
freatures of aperts
turribrachycephaly
max retrusion
proptosis
downward palpebral fissures
extracranial manifestations aperts
syndactyly
palatal clefts (57%
cervical vertebral fusions
decreased intelegence
sequence of fusion in aperts
usually bicoronal at birth with subsequent fusion all sutures by 2
what are different types of pfeiffer
can present with bicoronal to pan synostosis
type 1- least affected- bicronal with midface retrusion
type 2 and 3- midface retrusion to obstruc upper airway- ocular protrusion to cause cornea damage
type 2- cloverleaf
what are digital anomolies seen with pfifer
curved or shortend thumbs and great toe- digital fusions
other extra cranial pfifer manifestatiosn
ankulosis of elbows
fusion of cervecal vertebra
what is saethre-Chotzen syndome
autosomal dominant fusion variability coronal synostosos- shoert digits and synfacyly- low frontal hairline, prominant nose, ptosis
Twist gene- loss of fucntion
muenke syndrome
what gene FGFR3- one or both fusion of coronal sutures
craniofrontalnasal dysplasia
X linked syndrome- hypertelorism- wiry hair- gap between incisors
carpenter syndrome
autosomal recessive- RAB23 gene extra digits-(aka acrocephalopolysyndactyly)
common genetic mutations
FGFR1, FGFR2 for pfifer and FGFR3 for muenke- all tyorsine kinase receptors
- usually gain of function
