This document discusses jaw deformities including their definition, history, classification, treatment considerations, and complications. It provides details on congenital and acquired causes such as trauma during birth, wisdom tooth removal, and infections. Specific conditions that can cause jaw deformities like Treacher Collins syndrome and Pierre Robin sequence are explained. The treatment of early jaw deformity cases and development of procedures like Le Fort osteotomies are summarized.
3. A true resultant deformity of the jaw
bone/bones due to congenital anomalies
or acquired during the growth and
development of an individual (trauma,
habbits, familial, pathology or post cancer
surgery).
5. •
The first known correction of jaw deformity was carried out without
anaesthesia in the mid 19th century by an American, General
Surgeon Simon Hullihen.
• He was referred a patient with gross facial deformities as the result of
scarring from burns early in childhood, with a history of multiple
previous operations.
• He undertook initially an osteotomy of the mandible, repositioning
the anterior segment to correct an anterior open bite and
subsequently he carried out soft tissue surgery to improve the overall
appearance and functionality of the soft tissues of the lips, chin and
neck to return them to their normal position thus achieving lip closure
and a relatively normal facial profile. That was in 1848 .
6. • Maxillary surgery for tumour removal had been carried out in the
19th century by von Langenbeck in Germany and by Cheever in the
US.
• It was not until the 1920’s that midface surgery as previously described
in the 19th century was specifically used to correct maxillary
deformity where there was severe maxillary retrusion often in
association with cleft palate problems.
• Martin Wassmund and Georg Axhausen were the first in Germany
to develop the procedure for midface deformity .
• Le Fort I osteotomy became widely accepted for the correction of low
midface deformity often in conjunction with mandibular surgery.
20. A congenital condition of facial abnormalities in humansin which a
chain of certain developmental malformations, one entailing the next.
The 3 main features are cleft palate, micrognathia , glossoptosis
Pierre Robin sequence may be caused by genetic anomalies at
chromosomes 2, 11, or 17.
21. • Also known as Oculo-Auriculo-Vertebral (OAV) syndrome
• Characterized by incomplete development of the ear, nose, soft
palate, lip, and mandible.
26. • Crouzon in 1912
• Crouzon syndrome (craniofacial dysostosis)is a genetic disorder
known as a branchial arch syndrome.
• This syndrome affects the first branchial (or pharyngeal) arch, which
is the precursor of the maxilla and mandible.
27. • Classified by apert in 1906
• Apert syndrome is a form of acrocephalosyndactyly, a congenital
disorder characterized by malformations of the skull, face, hands and
feet.
• It is classified as a branchial arch syndrome, affecting the
first branchial (or pharyngeal) arch, the precursor of
the maxilla and mandible.
28. •
•
•
•
•
Hypoplasia of maxilla
Failure of eruption of permanent teeth.
Frontal Bossing (bulging) of the forehead.
Open skull sutures, large fontanelles.
Hypertelorism.
Decribed in 1900 by Treacher-Collins.Termed mandibulofacialdysosteosis by franceschetti & klein 1944 & 1949.a rare autosomal dominant congenital disorder characterized by craniofacial deformities, such as absent cheekbones.
Pierre Robin syndrome (abbreviated to PRS, and also known as Pierre Robin malformation, Pierre Robin sequence,Pierre Robin anomaly or Pierre Robin anomalad), is a congenital condition of facial abnormalities in humans. PRS is a sequence, i.e. a chain of certain developmental malformations, one entailing the next. The 3 main features are cleft palate,micrognathia (a small jaw) and glossoptosis (airway obstruction caused by backwards displacement of the tongue base). A genetic cause to PRS was recently identified. Pierre Robin sequence may be caused by genetic anomalies at chromosomes 2, 11, or 17.
Goldenhar syndrome (also known as Oculo-Auriculo-Vertebral (OAV) syndrome) is a rare congenital defectcharacterized by incomplete development of the ear, nose, soft palate, lip, and mandible. It is associated with anomalous development of the first branchial arch and second branchial arch.[1] Common clinical manifestations include limbaldermoids, preauricular skin tags, and strabismus.[2]Chief markers of Goldenhar syndrome are incomplete development of the ear, nose, soft palate, lip, and mandible on usually one side of the body. Additionally, some patients will have growing issues with internal organs, especially heart, kidneys, and lungs.
Crouzon syndrome is a genetic disorder known as a branchial arch syndrome. This syndrome affects the first branchial (or pharyngeal) arch, which is the precursor of the maxilla and mandible. Since the branchial arches are important developmental features in a growing embryo, disturbances in their development create lasting and widespread effects.
Crouzon syndrome is a genetic disorder known as a branchial arch syndrome. Specifically, this syndrome affects the first branchial (or pharyngeal) arch, which is the precursor of the maxilla and mandible. Since the branchial arches are important developmental features in a growing embryo, disturbances in their development create lasting and widespread effects.
Fibrous dysplasia (FD) is a slowly progressive condition characterized by replacement of normal bone with an amalgamate of cellular fibrous tissue and irregular bony trabeculae.Genetically, there is a post-zygotic mutation of the gene GNAS1, on the long (q) arm of chromosome 20 at position 13.3, which is involved in G-protein signalling.[4] This mutation, often a mosaicism, prevents downregulation of cAMP signalling.Polyostotic fibrous dysplasia is usually caused by mosaicism for a mutation in a gene called GNAS1 (Guanine Nucleotide binding protein, Alpha Stimulating activity polypeptide 1).