Professional Documents
Culture Documents
CONTENTS/SYNOPSIS
Introduction
Embryological development of face
Sequential events
Structures Contributing to Formation of the Face
Craniofacial anomalies
1. The Treacher Collins syndrome or mandibulofacial dysostosis
2. Pierre Robin syndrome (hypoplasia of the mandible with Glossoptosis)
3. Mandibular dysostosis
4. Cleft Lip and Cleft Palate
5. Apert’s Syndrome
6. Crouzon’s Syndrome
7. DiGeorge anomaly
8. Hemifacial microsomia (oculoauriculovertebral spectrum, Goldenhar syndrome)
References
INTRODUCTION
©Brihaspathi Academy
drpnnreddy@brihaspathiacademy.com
ORTHODONTICS AND DENTOFACIAL ORTHOPAEDICS 2
Paper – I (Applied Anatomy)
• Development of the face occurs primarily between weeks 4 and 8, so that by the
end of the eighth week the face has taken on a human appearance.
• Facial development after week 8 occurs slowly and involves changes in facial
proportions and relative positions of facial components.
• Facial development results mainly from enlargement and movement of the
frontonasal prominence and four prominences from pharyngeal arch I, the paired
maxillary prominences, and mandibular prominences. These structures surround
the stomodeum.
• The maxillary and mandibular prominences develop as a result of neural crest
cells migrating and proliferating into pharyngeal arch I.
©Brihaspathi Academy
drpnnreddy@brihaspathiacademy.com
ORTHODONTICS AND DENTOFACIAL ORTHOPAEDICS 3
Paper – I (Applied Anatomy)
5. The mesenchyme along the periphery of the nasal placodes proliferates and
forms horseshoe shaped ridges called the medial nasal prominences and lateral
nasal prominences. The center of the placode becomes thinner, eventually
leading to loss of ectoderm and formation of nasal pits.
• The nasal pits are the precursors of the nostrils and nasal cavities.
©Brihaspathi Academy
drpnnreddy@brihaspathiacademy.com
ORTHODONTICS AND DENTOFACIAL ORTHOPAEDICS 4
Paper – I (Applied Anatomy)
7. The medial nasal prominences move toward each other, fuse in the midline, and
form the intermaxillary segment. The intermaxillary segment is of special
importance because it gives rise to the philtrum (middle portion) of the upper lip,
four incisor teeth, alveolar bone and gingiva surrounding them, and primary
Palate.
8. The maxillary prominences fuse laterally with the mandibular prominences. The
medial nasal prominences fuse with the maxillary prominences and lateral nasal
prominences.
▪ The nasolacrimal ducts (originally called the nasolacrimal grooves) are
bilateral epithelial structures that form at the line of fusion between lateral
nasal prominences and maxillary prominences.
▪ Each nasolacrimal duct eventually connects the lacrimal sac to the nasal
cavity.
©Brihaspathi Academy
drpnnreddy@brihaspathiacademy.com
ORTHODONTICS AND DENTOFACIAL ORTHOPAEDICS 5
Paper – I (Applied Anatomy)
CRANIOFACIAL ANOMALIES
1. Treacher Collins syndrome or mandibulofacial dysostosis
• It is among 'first arch syndrome'
• It is characterized by malar hypoplasia due to underdevelopment of the
zygomatic bones, mandibular hypoplasia, down-slanting palpebral fissures,
lower eyelid colobomas, and malformed external ears.
• Treacher Collins is inherited as an autosomal dominant trait, with 60% arising
as new mutations.
• However, phenocopies can be produced in laboratory animals following
exposure to teratogenic doses of retinoic acid, suggesting that some cases in
humans may be caused by teratogens.
©Brihaspathi Academy
drpnnreddy@brihaspathiacademy.com
ORTHODONTICS AND DENTOFACIAL ORTHOPAEDICS 6
Paper – I (Applied Anatomy)
Mandibular dysostosis
• Obviously, micrognathia may occur in varying degrees, some so slight as to be
unnoticed, and it is probably only in cases with a disproportionately large tongue
interfering with respiration and feeding that the condition calls for attention.
• Nager and Reynier (1948) did not mention glossoptosis when they described
mandibular hypoplasia in association with defects of the ear; they called this
syndrome mandibular dysostosis.
©Brihaspathi Academy
drpnnreddy@brihaspathiacademy.com
ORTHODONTICS AND DENTOFACIAL ORTHOPAEDICS 7
Paper – I (Applied Anatomy)
2. Syndromic CLP
▪ Over 300 syndromes are known to have clefting of the lip or palate as an
associated feature.
▪ As with all clinically recognizable syndromes, cases of syndromic CLP or
CP can be broadly subdivided into—
i. Those that occur as part of characterized Mendelian disorder (single
gene defects)
ii. Those arising from structural abnormalities of the chromosomes
iii. Syndromes associated with known teratogens
iv. those whose causation remains obscure and are therefore, currently
uncharacterized.
3. Syndromic CP
▪ In addition to syndromic CLP, progress has also been made in elucidating
the genetic mechanisms behind several syndromic causes of isolated CP.
▪ Some of the syndromes associated with CP are mandibulofacial dysostosis
(Treacher Collins syndrome), holoprosencephaly, type-3 Stickler syndrome.
4. Sex-linked CP (CPX)
▪ Philip Stainer and Gudrun Moore found the Sex (X) chromosome linked
form of cleft palate (CPX) and an associated disorder ankyloglossia can
occur due to mutations in a gene T-Box 22.
▪ T-Box genes are members of a family of transcription regulators that share
a common DNA-binding domain, the T-Box.
©Brihaspathi Academy
drpnnreddy@brihaspathiacademy.com
ORTHODONTICS AND DENTOFACIAL ORTHOPAEDICS 8
Paper – I (Applied Anatomy)
Apert’s Syndrome
• Apert’s syndrome (also known as Apert-Crouzon disease) is characterized by
skull malformation (acrocephaly of brachy sphenocephalic type) and syndactyly
of the hands and feet of a special type (complete distal fusion with a tendency to
fusion also of the bony structures).
• It is associated with an autosomal dominant inheritance pattern. In Apert’s
syndrome, the associated midface hypoplasia is thought to be secondary to a
cartilage maturation defect affecting the cranial base.
Crouzon’s Syndrome
• It is a frequent form of craniofacial dysostosis, characterized by multiple
anomalies of the craniofacial skeleton with an autosomal dominance inheritance
pattern.
• Its manifestations are usually less severe than the Apert’s syndrome and there
are no malformations of the extremities.
• Characteristic premature synostosis of both coronal sutures results, with a
resultant brachycephalic shape to the skull, midface hypoplasia with an Angle's
class III malocclusion, hypoplastic orbits with a proptosis, Parrot beak nose and
short anterior cranial base.
©Brihaspathi Academy
drpnnreddy@brihaspathiacademy.com
ORTHODONTICS AND DENTOFACIAL ORTHOPAEDICS 9
Paper – I (Applied Anatomy)
DiGeorge anomaly
• It occurs in approximately 1 in 2000 to 3000 births and represents the most
severe example of a collection of disorders that also includes velocardiofacial
syndrome (VCFS) and conotruncal anomalies face syndrome
• All of these disorders are part of a spectrum called CATCH22 because they
include cardiac defects, abnormal facies, thymic hypoplasia, cleft palate, and
hypocalcemia and are a result of a deletion on the long arm of chromosome 22
(22q11).
• Patients with complete DiGeorge anomaly have immunological deficiencies,
hypocalcemia, and a poor prognosis.
• Origin of the defects is caused by abnormal development of neural crest cells
that contribute to formation of all the affected structures. In addition to genetic
causes, exposure to retinoids (vitamin A), alcohol, and maternal diabetes can
produce the defects.
©Brihaspathi Academy
drpnnreddy@brihaspathiacademy.com
ORTHODONTICS AND DENTOFACIAL ORTHOPAEDICS 10
Paper – I (Applied Anatomy)
REFERENCES
1. Textbook of craniofacial growth –Shridhar Premkumar
2. Textbook of Orthodontics, Samir E. Bishara, 2001
3. Inderbir Singh’s medical embryology. Eleventh edition. Chapter 12- Alimentary
system I- mouth, pharynx and related structures. Jaypee Brothers Medical
Publishers. 2018.
4. Sadler, T. W., and Jan Langman. Langman's Medical Embryology. Philadelphia,
Pa: Lippincott Williams & Wilkins, 2018.
5. Craniofacial Embryogenetics And Development Craniofacial Embryogenetics and
Development. Sperber GH, Sperber SM, Guttmann GD. Shelton, CT: People's
Medical Publishing House-USA. 2010
*****
©Brihaspathi Academy
drpnnreddy@brihaspathiacademy.com