AACP Meeting 2013 - Face Embryology

From Embryology

Face Embryology

2013 Australian Chapter, American Academy of Craniofacial Pain (AACP) Meeting May 18 May 2013

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I hope you enjoyed today's presentation. Please feel free to now come back and do some self-directed learning.


If you are interested I also have one of those twitter accounts, though I know am not as active as I should be. Tweets are focussed on Embryology and developmental news.


--Mark Hill (talk) 12:24, 18 May 2013 (EST)

@MarkHill_UNSW
Dr Mark Hill, Medicine UNSW
Acps-logo.png

Introduction

Development of the Face

This animation shows a ventral view of development of the human face from approximately week 5 through to neonate.

The separate embryonic components that contribute to the face have been colour coded.

  • Frontonasal Prominence central portion (white)
  • Frontonasal Prominence - Lateral nasal (purple)
  • Frontonasal Prominence - Medial nasal (green)
  • Pharyngeal Arch 1 - Maxillary prominence (yellow)
  • Pharyngeal Arch 1 - Mandibular prominence (orange)
  • Stomodeum (black)

The stomodeum is the primordial mouth region and a surface central depression lying between the forebrain bulge and the heart bulge. At the floor of the stomodeum indentation is the buccopharyngeal membrane (oral membrane).

Note the complex origin of the maxillary region (upper jaw) requiring the fusion of several embryonic elements, abnormalities of this process lead to cleft lip and cleft palate.


Key Concepts

Buccopharyngeal Membrane

These images of the Stage 11 embryo show the breakdown of the buccopharyngeal membrane.

The Pharynx

Head arches cartoon.jpg Stage13 B2 excerpt.gif Pharynx cartoon.jpg

The cavity within the pharyngeal arches forms the pharynx.

  • begins at the buccopharyngeal membrane (oral membrane), apposition of ectoderm with endoderm (no mesoderm between)
  • expands behind pharyngeal arches
  • narrows at glottis and bifurcation of gastrointestinal (oesophagus) and respiratory (trachea) systems
  • regions on roof, walls and floor have important contributions to endocrine in oral and neck regions
  • also contributes to tongue development

Pharyngeal Arches

Human Embryo Pharyngeal arches (week 50

Pharyngeal arch structure cartoon.gif

Major features to identify for each: arch, pouch, groove and membrane. Contribute to the formation of head and neck and in the human appear at the 4th week. The first arch contributes the majority of upper and lower jaw structures.

  • branchial arch (Greek. branchia = gill)
  • arch consists of all 3 trilaminar embryo layers
  • ectoderm- outside and neural crest
  • mesoderm - core of mesenchyme
  • endoderm - inside

Neural Crest

neural crest migration
  • Mesenchyme invaded by neural crest generating connective tissue components
  • cartilage, bone, ligaments
  • arises from midbrain and hindbrain region
Chicken-neural-crest-migration-01.jpg
 ‎‎Neural Crest 1
Page | Play
Mouse cranial neural crest migration 01.jpg
 ‎‎Cranial Neural Crest
Page | Play

Arch Cartilages

Pharyngeal arch cartilages.jpg Meckel.jpg

Keibel Mall 324.jpg

Meckel's cartilage - located within the first pharyngeal arch mandibular prominence, forms a cartilage "template" besides which the mandible develops by the process of intramembranous ossification. It is important to note that this cartilage template does not ossify (endochondral ossification) but provides a transient structure where the mandible will form, and later degenerates.


Week 3

Gestational Age (GA week 5)

These images of the Stage 11 embryo show the breakdown of the buccopharyngeal membrane.

Week 4 to 5

Gestational Age (GA week 6 to 7)

Stage 14 (week 5)

Begins week 4 centered around stomodeum, external depression at oral membrane

5 initial primordia from neural crest mesenchyme (week 4)

  • single frontonasal prominence (FNP) - forms forehead, nose dorsum and apex
    • nasal placodes develop later bilateral, pushed medially
  • paired maxillary prominences - form upper cheek and upper lip
  • paired mandibular prominences - lower cheek, chin and lower lip

Stage14 bf1.jpgStage14 sem1.jpg

Cranial Ganglia

Stage 13 sections

Stage 13 image 052.jpg

Stage 13 image 053.jpg

Stage 13 image 054.jpg

Week 6 to 7

Gestational Age (GA week 8 to 9)

Stage16-18 face 02.jpg

Movie shows a quick animation of the ventral views of the human embryo face, between Carnegie stage 16 to stage 18 (Week 6 to Week 7). Animation based on Kyoto embryos.


Note the initial prominence of the pharyngeal arches and nasal region. Then the development of the midline frontonasal region and the relative shifting of the nasal region from lateral to anterior location on to the developing face.


Links: MP4 version | Lecture - Head Development | Movies

Week 5 to 8

Gestational Age (GA week 7 to 10)

Stage15to22 head icon.jpg

Movie shows a quick animation of the lateral view of the human embryo head, between Carnegie stage 15 to stage 22 (Week 5 to Week 8). Note that these stage images are not to scale.


Links: MP4 version | Face Development Movie | Lecture - Head Development | Movies

Week 9

Gestational Age (GA week 11)

Secondary Palate Development

Palate 001 icon.jpg

Animation shows an inferior view of the developmental sequence of secondary palate formation. The lower jaw has been removed and the view shows the roof of the oral cavity and the maxilla (upper jaw) and lip.

  • Animation shows the left and right maxillary processes of the first pharyngeal arch.
  • Primary palate formation is the fusion of these maxillary processes with the frontonasal prominence (FNP) in the midline.
    • Frontonasal prominence (FNP) contributing midline component of the upper jaw as well as the the philtrum of the upper lip.
  • Secondary palate formation is the growth of the palatal shelves towards the midline.
Palate 002 icon.jpg

Animation shows an anterior view of the developmental sequence of secondary palate formation. The frontal region of the head has been removed to show the changes within the oral cavity.

Secondary palate formation is the growth of the palatal shelves towards the midline, from top to bottom:

  • frontonasal prominence - (FNP) midline forming nasal septum separating nasal cavities.
  • left and right nasal cavities - showing developing conchae and cartilage.
  • first pharyngeal arch maxillary processes - (palatal shelves) left and right growing towards midline and elevating above the tongue.
  • oral cavity - developing from the pharynx.
  • tongue - developing from the pharyngeal arches.


Palate Links: Palate - inferior view | MP4 movie | Palate - anterior view | MP4 movie | Palate Development | Lecture - Head Development | Lecture - GIT Development | Ultrasound | Category:Palate | Movies

Week 10

Gestational Age (GA week 12)

Fetal week 10 hard palate 07.jpg

hard palate

Fetal week 10 soft palate 03.jpg

soft palate


Fetal Palate Links: Hard and soft palate | Detail - hard and soft palate junction | Detail - hard palate seam | hard palate | hard palate labeled | soft palate | soft palate labeled | Fetal palate movie | MP4 version | GIF version | Palate Development



Image Source: Prof Virginia Diewert

Week 12

Gestational Age (GA week 14)

Fetal head section 01.jpg

Bone and Cartilage
Fetal head medial.jpg Fetal head lateral.jpg
Medial view Lateral view


12 Week Images: Sagittal unlabeled | Sagittal labeled | Sagittal medial view | Sagittal lateral view | Pituitary unlabeled | Pituitary labeled | Tongue | Skull Development | Head Development

Week 14

Gestational Age (GA week 16)

Fetal week 14 head bone lateral 01.jpg
Adult Skull Movie 1 icon.jpg
 ‎‎Viscerocranium
Page | Play

Growth of Head Structures

Maxilla

  • First pharyngeal arch - upper maxillary (pair) and lower mandibular prominences
  • Late embryonic period - maxillary prominences fuse with frontonasal prominence forming upper jaw (maxilla and upper lip)
EM Links: Image - stage 16 | Image - stage 17 | Image - stage 18 | Image - stage 19 | Palate Development


Temporal Bone and Mandible

Image shows growth of both bones from the end of the embryonic period (week 8) through the fetal period of development (to 9 months).

Human fetal temporal bone and mandible 01.jpg

Adult Skull Movie 2 icon.jpg
 ‎‎Temporal Bones
Page | Play

Inner Ear

Adult hearing embryonic origins
Week 5 Week 8
Stage13 otocyst.jpg Stage22 ear.jpg
Stage 13 embryo (week 5) showing otocyst that will form the inner ear. Stage 22 embryo (week 8) showing the embryo near the end of the embryonic period.

External Ear

Images of the lateral view of the human embryonic head from week 5 (stage 14) through to week 8 (stage 23) showing development of the auricular hillocks that will form the external ear.

The adult ear is also shown indicating the part of the ear that each hillock contributes.

Images are not to scale.

External Ear 5 months-icon.jpg
 ‎‎External Ear
Page | Play

External ear stages-14-23-adult.jpg

Fetal Head Growth

Fetal head growth circumference graph01.jpg

Neonatal Skull

These computed tomography (CT) scans of the normal neonatal skull are shown as as 3D surface-rendered reconstructions. Skull CT normal sutures.jpg

Skull Sutures

Adult Skull

The bones enclosing the brain have large flexible fibrous joints (sutures) which allow firstly the head to compress and pass through the birth canal and secondly to postnatally expand for brain growth. (More? Molecular Skull Sutures) These sutures gradually fuse at different times postnatally, firstly the metopic suture in infancy and the others much later. Abnormal fusion (synostosis) of any of the sutures will lead to a number of different skull defects, leading to disruption of brain development. (More? Abnormal Synostosis) In old age all these sutures are generally completely fused and ossified.

At the molecular level, accelerated suture intramembranous ossification can be mediated through a dual role of β-catenin in both the expansion of osteoprogenitors and the maturation of osteoblasts.[1] These researchers also show that disruption of Axin2/β-catenin signaling alters the regulation of the downstream transcription target, cyclin D1, in the canonical Wnt pathway.[2]

Cranial Base Synchondroses

In the base of the skull there can also be found a number of synchondrosis, "cartilage sutures", that are the last to close and have a role in the ongoing growth of the postnatal skull.

Synchondrosis is a type of cartilaginous joint in which the cartilage is usually converted into bone before adult life. It has been compared in appearance to a long bone growth plate, but is bipolar rather than unipolar in structure.


These sutures also lost at different times in postnatal development:

  • Inter-sphenoidal – around birth
  • Spheno-ethmoidal – 6-7 yrs
  • Spheno-occipital – 12-15 yrs

Head Growth

Slightly different charts for girls and boys. Given as head circumference-for-age Birth to: 13 weeks, 2 years, 5 years.

Girls Boys
WHO chart - girls head birth to 5 years.png WHO chart - boys head birth to 5 years.png
Chart PDF | WHO - Girls Chart PDF | WHO - Boys
Links: Growth Charts | - Standard Head circumference-for-age | WHO Growth Standards

Abnormalities

Pharyngeal Abnormalities

Embryonic clefting, ventral view (stage16)

There are typically four different terms for the different types of pharyngeal abnormalities, all of these except clefting are relatively rare.

  • Sinuses - a pharyngeal groove defect, when a portion of the groove persists and opens to the skin surface, located laterally on the neck.
  • Fistula - a pharyngeal membrane defect, a tract extends from pharynx (tonsillar fossa) beween the carotid arteries (internal and external) to open on side of neck.
  • Cysts -a cervical sinus defect, remants of the cervical sinus remains as a fluid-filled cyst lined by an epithelium.
  • Vestiges - a cartilaginous or bony developmental remnants that lie under the skin on side of neck.
  • Clefting - the way in which the upper jaw forms from fusion of the smaller upper prominence of the first pharyngeal arch leads to a common congenital defect in this region called "clefting", which may involve either the upper lip, the palate or both structures.

Cleft Lip and Palate

  • 300+ different abnormalities, different cleft forms and extent, upper lip and ant. maxilla, hard and soft palate
Cleft_palate.jpg Unilateral cleft palate.jpg Bilateral cleft palate.jpg
cleft palate unilateral cleft lip and palate bilateral cleft lip and palate
Ultrasound Cleft Lip and Palate
Cleft lip 01.jpg
 ‎‎Cleft Lip 18 Week
Page | Play
Cleft lip 02.jpg
 ‎‎Cleft Lip 15 Week
Page | Play

Cleft Palate

  • Cleft palate has the International Classification of Diseases code 749.0.
  • In Australia the national rate (1982-1992) for this abnormalitity in births was 4.8 - 6/10,000 births, which represented 1,530 infants 5.5% were stillborn and 11.5% liveborn died during neonatal period and slightly more common in twin births than singleton.

Cleft Lip

  • The International Classification of Diseases code 749.1 for isolated cleft lip and 749.2 for cleft lip with cleft palate.
  • In Australia the national rate (1982-1992) for this abnormalitity was 8.1 - 9.9 /10,000 births. Of 2,465 infants 6.2% were stillborn and 7.8% liveborn died during neonatal period and the rate was similar in singleton and twin births.
Links: Palate Development


Skull

Cephalic (Greek, kephale = head) are a group of abnormalities that relate to a wide range of skeletal (skull) and neural (brain) associated defects.

Abnormal Neonatal Skull (CT)
Skull CT abnormal 01.jpg

Dolichocephaly and Scaphocephaly

Skull CT abnormal 02.jpg

Coronal Synostosis

Skull CT abnormal 03.jpg

Anterior Plagiocephaly

Skull CT abnormal 04.jpg

Turricephaly

Skull CT abnormal 05.jpg

Posterior Plagiocephaly

Skull CT abnormal 06.jpg

Deformational Plagiocepahly

Skull CT abnormal 07.jpg

Trigonocephaly

Skull CT abnormal 08.jpg

Oxycephaly

Skull CT Images: Normal overview | Normal vertex and lateral | Normal endocranial and vertex | Normal Vertex - Fontanels | Dolichocephaly and Scaphocephaly | Coronal Synostosis | Anterior Plagiocephaly | Turricephaly | Posterior Plagiocephaly | Deformational Plagiocepahly | Trigonocephaly | Oxycephaly | Computed Tomography

Genetic Syndromes

First Arch Syndrome - There are 2 major types of associated first arch syndromes, Treacher Collins (Mandibulofacial dysostosis) and Pierre Robin (Pierre Robin complex or sequence), both result in extensive facial abnormalites.

Treacher Collins Syndrome

Treacher Collins Syndrome (head lateral view)
  • a rare autosomal dominant craniofacial disorder (1:50,000)
  • TCOF1 gene encoding Treacle protein
    • caused by frameshift deletions or duplications
    • located chromosome 5
    • encodes a serine/alanine-rich nucleolar phospho-protein

Features

  • hypoplasia of the mandible and zygomatic complex
  • down-slanting palpebral fissures
  • coloboma of the lower eyelid
  • absence of eyelashes medial to the defect
  • external and middle ear malformation
  • conductive hearing loss

Pierre Robin Syndrome

Also called Pierre Robin sequence.

  • Hypoplasia of the mandible, cleft palate, eye and ear defects.
  • micrognathia - Initial defect is small mandible resulting in posterior displacement of tongue and a bilateral cleft palate.
  • retroglossia
  • U-shaped posterior cleft palate
Newborn micrognathia[4]


Pierre Robin sequence 01.jpg

Frontal and lateral views of an infant with Pierre Robin sequence.[5]

DiGeorge Syndrome

  • absence of thymus and parathyroid glands, 3rd and 4th pouch do not form
  • disturbance of cervical neural crest migration

Mandibular Hypoplasia

Adult mandible

One of the most common malformations of the facial skeleton usually associated with a deficient gonial angle, ascending ramus, and mandibular corpus.

  • gonial angle - (angle of the jaw, angle of the mandible) the angle formed by the junction of the posterior and lower borders of the human lower jaw.
  • ascending ramus - the more or less vertical part of the jaw which carries the joint with the skull.
  • mandibular corpus - the horizontal or tooth-bearing portion of the mandible.

Choanal Atresia

Choanal atresia computed tomography[6]
  • Choanal atresia is the most common form of congenital nasal obstruction, usually diagnosed at birth.[6]
  • failure of the posterior nasal cavity (choanae) to communicate with the nasopharynx.
  • Thought to be secondary to an abnormality during the rupture of the buccopharyngeal membrane in the embryological period.


Links: Smell Development


Fetal Alcohol Syndrome

Fetal Alcohol Syndrome facial features

(FAS) Due to alcohol in early development (week 3+) leading to both facial and neurological abnormalities. This disorder was clinically described (USA) in humans about 30 years ago (1973), while historically alcohol's teratogenic effects were identified in the early 20th century in a mix with the prohibition cause of the period. Similar effects without the obvious alterations to appearance, but with nervous system effects, are sometimes identified as Fetal Alcohol Effects (FAE). Alcohol is able to cross the placenta from maternal circulation through the placenta into fetal circulation.

FAS Features:

  • lowered ears, small face, mild+ retardation
  • Microcephaly - leads to small head circumference
  • Short Palpebral fissure - opening of eye
  • Epicanthal folds - fold of skin at inside of corner of eye
  • Flat midface
  • Low nasal bridge
  • Indistinct Philtrum - vertical grooves between nose and mouth
  • Thin upper lip
  • Micrognathia - small jaw

Exposure of embryos in vitro to ethanol simulates premature differentiation of prechondrogenic mesenchyme of the facial primordia (1999)


Links: Abnormal Development - Fetal Alcohol Syndrome


Movies

Face 001 icon.jpg
 ‎‎Face Development
Page | Play
Palate 001 icon.jpg
 ‎‎Palate (oral view)
Page | Play
Palate 002 icon.jpg
 ‎‎Palate (front view)
Page | Play
Tongue 001 icon.jpg
 ‎‎Tongue
Page | Play
Postnatal human mandible growth icon.jpg
 ‎‎Mandible Growth
Page | Play
Fetal week 10 palate icon.jpg
 ‎‎Fetal Palate
Page | Play
External Ear 5 months-icon.jpg
 ‎‎External Ear
Page | Play
Cleft lip 01.jpg
 ‎‎Cleft Lip 18 Week
Page | Play
Cleft lip 02.jpg
 ‎‎Cleft Lip 15 Week
Page | Play
Adult Skull MRI Links: Skull Development - MRI
Adult Skull Movie 1 icon.jpg
 ‎‎Viscerocranium
Page | Play
Adult Skull Movie 2 icon.jpg
 ‎‎Temporal Bones
Page | Play
Adult Skull Movie 3 icon.jpg
 ‎‎Occipital - Frontal
Page | Play
Adult Skull Movie 4 icon.jpg
 ‎‎Parietal-Zygomatic
Page | Play

References

  1. Liu B, Yu HM & Hsu W. (2007). Craniosynostosis caused by Axin2 deficiency is mediated through distinct functions of beta-catenin in proliferation and differentiation. Dev. Biol. , 301, 298-308. PMID: 17113065 DOI.
  2. Mirando AJ, Maruyama T, Fu J, Yu HM & Hsu W. (2010). β-catenin/cyclin D1 mediated development of suture mesenchyme in calvarial morphogenesis. BMC Dev. Biol. , 10, 116. PMID: 21108844 DOI.
  3. Lancaster P & Pedisich E 1995. Congenital malformations Australia 1981-1992. Birth defects series no. 1. Cat. no. AIHW 213. Canberra: AIHW | NPESU | ISSN 13218352.
  4. Morokuma S, Anami A, Tsukimori K, Fukushima K & Wake N. (2010). Abnormal fetal movements, micrognathia and pulmonary hypoplasia: a case report. Abnormal fetal movements. BMC Pregnancy Childbirth , 10, 46. PMID: 20716376 DOI.
  5. Sesenna E, Magri AS, Magnani C, Brevi BC & Anghinoni ML. (2012). Mandibular distraction in neonates: indications, technique, results. Ital J Pediatr , 38, 7. PMID: 22300418 DOI.
  6. 6.0 6.1 Al-Noury K & Lotfy A. (2011). Role of multislice computed tomography and local contrast in the diagnosis and characterization of choanal atresia. Int J Pediatr , 2011, 280763. PMID: 21772853 DOI.

Related Pages

Head Links: Introduction | Medicine Lecture | Medicine Lab | Science Lecture | Lecture Movie | Science Lab | pharyngeal arch | Craniofacial Seminar | mouth | palate | tongue | placode | skull | neural crest | Head and Face Movies | head abnormalities | Category:Head
Historic Head Embryology  
1910 Skull | 1910 Skull Images | 1912 Nasolacrimal Duct | 1921 Human Brain Vascular | 1923 Head Subcutaneous Plexus | 1919 21mm Embryo Skull | 1920 Human Embryo Head Size | 1921 43 mm Fetal Skull | Historic Disclaimer

Historic

As I mentioned in my presentation, I have included here links to some beautiful illustrations and plates from historic embryology sources.

1910 Manual of Human Embryology

Keibel F. and Mall FP. Manual of Human Embryology I. (1910) J. B. Lippincott Company, Philadelphia. - The The Skull, Hyoid Bone, and Larynx


1920 Contributions to Embryology Carnegie Institution No.39

Lewis WH. The Cartilaginous Skull Of A Human Embryo Twenty-One Millimeters In Length. (1920) Contrib. Embryol., Carnegie Inst. Wash. Publ. 272, 9: 299-324.

1921 Contributions to Embryology Carnegie Institution No.48

Macklin CC. the skull of a human fetus of 43 millimeters greatest length. (1921) Contrib. Embryol., Carnegie Inst. Wash. Publ., 48, 10:59-102.



Glossary Links

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Cite this page: Hill, M.A. (2018, December 11) Embryology AACP Meeting 2013 - Face Embryology. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/AACP_Meeting_2013_-_Face_Embryology

What Links Here?
© Dr Mark Hill 2018, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G