1. By
Kimberly R. Jones
SLP 6000 – OG2
Differential Diagnosis in Speech-
Language Pathology
Nova Southeastern University
September 11, 2010
2. A genetic condition - FGFR2
gene mutation on
chromosome 10 (Crouzon syndrome, 2010)
Premature skull fusion
(Crouzon's syndrome, 2006)
1 in 10,000 births in U.S.
(Crouzon's syndrome, n.d.)
New mutation – 25 to 50% of
cases
(Head, 2010)
Autosomal Dominant
(Crouzon syndrome, 2010)
50% probability of transfer
to offspring (Crouzon's syndrome, 2006)
Most have normal
intelligence (Crouzon syndrome, 2010)
(Crouzon syndrom, n.d.)
3. Skull shape
(Erlanger Health System, 1997)
Eyes (Crouzon's syndrome, n.d.)
Mid-face/nose/teeth
(Crouzon's syndrome, n.d.)
Palate/lips (Seattle Children’s Hospital,
Research and Foundation, 2010)
Ears (California Ear Institute AtresiaRepair, 2007)
Distinguished from
other similar
syndromes by lack of
hand/foot deformities
(Head, 2010)
(Crooks, 2010)
5. Skull (Crouzon's syndrome, 2006)
Intracranial pressure/ hydrocephalus
Vision (Tay, Martin, Rowe, Johnson, Poole and Tan, 2006)
Amblyopia (Prevent Blindness America, 2005)
Ametropia (Dorland's Medical Dictionary for Health Consumers, 2007)
Optic atrophy
(Crouzon syndrome, 2010)
Breathing (Crouzon's syndrome, 2006)
Feeding
(Crouzon's syndrome, 2006)
Hearing (California Ear Institute AtresiaRepair, 2007)
6. Language skills are usually within the normal
range acquisition (Speech and language, n.d.)
Primary struggles involve:
Articulation
Voice
Social communication
Communication struggles vary based on:
Involvement of the palate
The extent of misalignment in the oral cavity
What kind of hearing loss exists and to what degree
(Castrogiovanni, 1997)
7. The focus of therapy depends upon the individual’s
presentation of problems and likely will change as
surgeries correct structural differences but strategies
may include:
Improving articulation of sounds
Improving voice and resonance
Improving social communication
8. We must remain focused on the person as a
whole:
http://www.youtube.com/watch?v=Hw_lhHJmxNo
(nma9384stine, 2009)
9. California Ear Institute Atresia Repair, Initials. (2007, September 4). Common conditions. Retrieved
from http://www.atresiarepair.com/spanish/conditions-treatments-crouzon-
syndrome-atresia-repair-doctor.htm
Castrogiovanni, Andrea. (1997). Communication facts: special populations: craniofacial syndromes-2008
edition. Retrieved from http://www.asha.org/research/reports/craniofacial.htm
Crooks, Eric. (2010, June 25). Crouzon's syndrom. Retrieved from
http://giemsanotserology.cascadiat.net/?p=11
Crouzon syndrome. (2010, September 19). Retrieved from http://ghr.nlm.nih.gov/condition/
crouzon-syndrome
Crouzon's syndrome. (2006). Retrieved from http://www.skullbaseinstitute.com/crouzons.htm
Crouzon's syndrome. (n.d.). Retrieved from http://www.worldcf.org/medical-info/craniofacial-
resources/crouzons-syndrome
Crouzon syndrom. (n.d.). Retrieved from http://www.headlines.org.uk/Crouzon.htm
10. Dorland's Medical Dictionary for Health Consumers, Initials. (2007). Ametropia. Retrieved from
Dorland's Medical Dictionary for Health Consumers
Erlanger Health System, Initials. (1997). Craniosynostosis. Retrieved from
http://www.scribd.com/doc/2966873/Craniosynostosis
Guze, Carol. (n.d.). Clinical genetics. Retrieved from http://www.carolguze.com/text/442-11-
clinical_genetics.shtml
Head, T. (2010, July 6). Crouzon syndrome frequently-asked questions . Retrieved from
http://www.crouzon.org/faq.html
Jenny's story: my life with crouzon syndrome. (n.d.). Retrieved from
http://webspace.webring.com/people/jc/crouzonsyndrome
Muhamad, Initials. (2009, June). Cleft lips and palates: the roles of specialists. Retrieved from
http://priory.com/dentistry/Cleft_Palates.htm
nma9384stine, Initials. (Producer). (2009). My montage. [Web]. Retrieved from
http://m.youtube.com/index?desktop_uri
11. Prevent Blindness America, Initials. (2005). Amblyopia. Retrieved from
http://www.preventblindness.org/children/amblyopiaFAQ
Seattle Children’s Hospital, Research and Foundation, Initials. (2010). Seattle children’s hospital,
research and foundation. Retrieved from http://www.seattlechildrens.org/medical-
conditions/bone-joint-muscle-conditions/crouzon-symptoms/
Speech and language problems presented by cruzon syndrome. (n.d.). Retrieved from
http://www.everyday-wisdom.com/crouzon-syndrome.html
Tay, T., Martin, F., Rowe, N., Johnson, K., Poole, M., Tan, K., et al. (2006). Prevalence and causes of
visual impairment in craniosynostotic syndromes. Clinical & Experimental Ophthalmology, 34(5),
434-440. Retrieved from MEDLINE database.
Editor's Notes
Caused by the mutation of the FGFR2 gene
This gene makes a protein which is responsible for telling immature cells to become bone cells while the embryo develops. It is believed that overstimulation of the FGFR2 protein causes the skull bones to fuse prematurely
Causes the bones in the skull of an infant to fuse together prematurely (craniosynostosis)
Most common site of fusion is the coronal suture (unilaterally or bilaterally) but other sutures may also be involved
Occurs in approximately 1 in every 10,000 births in the United States
Can occur in a family with no history of Crouzon’s as a new mutation
In order to appear it only requires one affected gene to be transferred to offspring
Affected adults have a 50% chance of transmitting the mutated gene to their offspring
Most people with Crouzon’s syndrome have normal intelligence levels
Premature fusion of certain bones in the skull : abnormal skull shape
This occurs because the brain continues to grow in the directions where the skull is not fused
Bulging & excessively wide-set eyes; Eyes pointing in different directions (strabismus)
The eyes bulge (ocular proptosis) because the eye sockets (orbits) are too shallow for the eyeballs (exophthalmos)
The muscles that move the eyes are often weak resulting in the eyes pointing in different directions (strabismus)
Underdeveloped mid-face: beak-like nose, compressed nasal passage, underdeveloped upper jaw, protruding and/or large lower jaw, misaligned/crowded teeth
High arched and narrow or cleft palate and/or lip
Ears may sit lower than typical (in normal development they start low and move upward but this process is interrupted due to the early fusion of the skull bones), the ear canal may be narrow or non-existent
Fusion of two or more sutures raises the risk for increased intracranial pressure and hydrocephalus (water on the brain)
According to Tay, Martin, Rowe, Johnson, Poole & Tan, 2006, Vision impairments are common for any syndrome that includes craniosynostosis, and many problems are preventable and due to one of the following:
Amblyopia – reduced vision caused by inadequate use of one eye either due to mis-alignment of the eyes or one eye focusing more than the other
Ametropia- where images do not focus correctly on the retina
Optic Atrophy – The death of the nerve tissues that transmit visual information to the brain
Breathing difficulties are associated with nasal airway obstruction resulting from the under-developed mid-face. This often results in mouth breathing.
Feeding difficulties may be present due to nasal obstruction and/or the presence of a cleft palate and/or lip
Hearing difficulties are often conductive in nature but they can also be sensorineural or both. They can be the result of abnormal outer ear structure and/or position, narrow ear canals, and/or high occurrences of middle ear infections and possible development of benign cysts due to structural abnormalities.
Language: Language skills are usually within the normal range unless cognitive deficits are also present or hearing difficulties affect language acquisition
Articulation:
Structural abnormalities of the oral cavity can cause distortions of fricatives and affricates (particularly sibilants) as well as inconsistent distortions during production of R and L
The difficulty with closing and/or rounding the lips may create struggles in the production of bilabial sounds and/or round vowels
Some may have articulation or speech pattern errors that are not related to the oral structure differences
Voice:
Velopharyngeal insufficiency is common resulting in hyper nasal speech
Hypo nasal speech is also possible if there is nasal cavity obstruction (less common than hypernasal speech)
Vocal nodules may cause hoarseness if they are compensating for speech difficulties with inappropriate laryngeal strategies
Many struggle with social communication due to non-acceptance of their different appearance combined with speech and hearing deficits
