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marfan syndrome
mutation in the FBN1 gene
bone overgrowth, loose joints and restrictive lung disease
Crouzon syndrome
craniosynostosis (fusion of the cranial suture- conductive hearing loss) and hypoplasia of the mid face, maxilla, or both, hypertelorism (eyes that are far a part)
class III malocclusion, conductive hearing loss, articulation disorders, hypo nasality
trisomy 13 syndrome
extra copy of chromosome 13, congenital heart defects, spina bifida, polydactyly (extra fingers and toes)
Russel Silver Syndrome
low birth weight, dwarfism, asymmetry of arms and legs, craniofacial disproportion, mandibular hypoplasia, microdontia (small teeth)
Williams syndrome
chromosome 7 abnormality in the protein elastin
“elfin-face syndrome”, small boned and short with a long upper lip. wide mouth, full lips, small chin, puffiness around eyes, low IQ but can have high intelligence for music, language and interpersonal skills, not afraid of strangers
Fragile X syndrome
dysmorphic facial features (elongated face, large ears), avoids eye contact, withdrawn socially, echolalia
effortful swallow
increases posterior tongue base movement to facilitate bolus clearance
super-supraglottic swallow
voluntarily moves the arytenoids anteriorly, closing the entrance to the laryngeal vestibule before and during the swallow
masako maneuver
moves the base of tongue and posterior pharyngeal wall closer together and forces them to work harder during the swallow
used for patients who present with BOT weakness
chin up/head back
used for reduced ROM for lingual elevation and increased stasis in the valleculae
dysfluencies (ex: k-k-k-k-kids) is how many morphemes
no morphemes
how many morphemes in: can’t, won’t, don’t
1 morpheme
coalescence
when 2 phonemes are substituted with a different phoneme that still has similar features
fronting eliminated at
3.5 years old
gliding eliminated at
6 years old
stopping and affrication eliminated at
3 years old
affrication eliminated at
3 years old
alveolarization and depalatization eliminated at
5 years old
