Craniofacial anomalies Flashcards
Treacher Collins syndrome is AKA?
Mandibulofacial dysosotosis
Treacher Collins is caused by a dominant or recessive gene on which chromosome?
Dominant on chromosome 5
What is the possible etiology for Treacher Collins?
A disruption in vitamin A metabolism
Are those with Treacher Collins mentally hindered?
No
Treacher Collins is a combination of facial cleft #?
6, 7, and 8
Cleft #6 is?
Downward sloping palpebral fissures, absence of eyelashes, colomboma lateral lower eyelid
Cleft #7 is?
Hypoplastic zygoma, microtia, mandibular hypoplasia, middle and inner ear hearing loss, macrostomia
Cleft #8 is?
Absent lateral orbital rim
Those with treater collins are evaluated at birth for what 3 things?
- airway adequacy
- micrognathia
- maxillary hypoplasia
If the cleft is involved in treacher-collins there can be problems with what functions?
Swallowing and eating in general
What is the subset of treacher collins we studied?
Nager’s
What is seen in Nager’s in addition to normal treacher-collins symptoms?
Upper extremity problems and hypoplasia of the radius, thumbs, and metacarpals
Apert syndrome is also known as?
Acrocephalosyndactyly
Apert syndrome is caused by a dominant or recessive gene?
Dominant
What is the main problem in Apert Syndrome?
Craniosynostosis
What is craniosynostosis?
Fused cranial sutures and syndactyly or fused digits
Describe what happens to the hands in Apert Syndrome
Spoon shaped as well as feet from fusion of digits 2, 3, and 4. 1 and 5 may possibly be involved as well
What other syndromes may involve craniosynostosis?
Crouzon’s and Pfeiffer’s
What abnormalities of the face are seen in Crouzon syndrome?
Midface or maxillary hypoplasia
Class 3 skull
What abnormalities of the eyes are seen in Crouzon syndrome?
Proptosis
Ocular hypertelorism
Divergent strabismus
There is a family history of cleft lip and palate in what percent of cases?
40%
What are some possible environmental causes of cleft?
B6 and folic acid deficiencies
Anti-convulsants
Winter conception
older mother
Cleft lip is caused by failure of what embryological structures to fuse?
Medial nasal and maxillary prominences
What causes cleft palate?
When the vertical palatal shelves fail to flip up during the 6th week of development
Abnormalities of what other body parts is associated with cleft palate?
Heart and extremities
If a surgeon does an early tissue graft of the palate, what can happen?
A pseudo-class 3 due to scar tissue forming which cannot grow
When is surgical lip closure done?
At 3 months or after the baby’s weight has doubled
When is palatoplasty done?
6-18 months
What can cause a posterior cleft?
Development is normal but the tongue is too large or the vertical growth is not great enough
External influences up to what trimester can influence growth
The 1st trimester
What teratogens can increase the chance of cleft lip
Smoking, anti-convulsants, depressants, and psychotics