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	==Pharyngeal Abnormalities==		==Pharyngeal Abnormalities==

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Z8600021: Created page with "{{ANAT2341Lab6}} ==Pharyngeal Abnormalities== The four different types of pharyngeal abnormalities are relatively rare. Sinuses - a pharyngeal groove defect, when a portion..."

2012-08-28T06:40:43Z

Created page with "{{ANAT2341Lab6}} ==Pharyngeal Abnormalities== The four different types of pharyngeal abnormalities are relatively rare. Sinuses - a pharyngeal groove defect, when a portion..."

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{{ANAT2341Lab6}}
==Pharyngeal Abnormalities==

The four different types of pharyngeal abnormalities 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 - cartilaginous or bony developmental remnants lies under the skin on side of neck.

==First Arch Syndrome==

There are 2 major types of genetic first arch syndrome, Treacher Collins and Pierre Robin, both result in extensive facial abnormalites.

Treacher Collins syndrome (TCS)
* a rare autosomal dominant craniofacial disorder (1:50.000)
* caused by frameshift deletions or duplications in the TCOF1 gene.
* 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

:'''Links:''' [http://www.nlm.nih.gov/medlineplus/ency/article/001607.htm Medline Plus - Pierre Robin Syndrome] | [http://www.nlm.nih.gov/medlineplus/ency/article/001659.htm Medline Plus - Treacher Collins Syndrome]

==Embryo Cleft Lip and Palate==

Human embryo primary palate cleft (Carnegie stage 16, 18 and 19, images not to scale, Kyoto collection)

Cleft lip and palate develop between the 4th and 8th week of gestation and is dominated by changes resulting in the formation of the nose. Palatal development occurs between the 7th and 12th week of gestation and is divided into the formation of the primary palate (prolabium), premaxilla and cartilaginous septum) and formation of the secondary palate (hard and soft palate).

300+ different abnormalities
different cleft forms and extent
upper lip and ant. maxilla
hard and soft palate

===Fetal Cleft Ultrasound Movies===
[[File:Cleft_lip_01.jpg]]

{| border='0px'
|-
| <Flowplayer height="460" width="604" autoplay="true">Cleft_lip_01.flv‎</Flowplayer>
| valign="top" |Movie shows a cleft lip in an 18 week fetus. Fetal facial clefting can be detected by ultrasound scans. A common form of facial abnormality is that of cleft lip and palate. This is associated with the way in which the maxillary processes of the first pharyngeal arch must grow and fuse.

A measurement of the facial cleft of 4.8 mm (between the 2 plus marks + +)

:'''Links:''' [[Media:Cleft_lip_01.mov‎|Quicktime version]] | [[Quicktime Ultrasound_-_Cleft_Lip_01|Quicktime]] | [[Ultrasound_-_Cleft_Lip_01|Flash]]
|}

A second movie shows a cleft lip in an 13 week (LMP 15 weeks) fetus. [[Quicktime Ultrasound_-_Cleft_Lip_02|Quicktime]] | [[Ultrasound_-_Cleft_Lip_02|Flash]]

==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 Classification===
unilateral incomplete - cleft on one side of the lip that does not extend into the nose.
unilateral complete - cleft on one side of the lip that extends into the nose.
bilateral complete - cleft that involves both sides of the lip and extends into and involves the nose.

===Cleft Lip===
{|
| [[File:Bilateral_cleft_palate.jpg|200px|Bilateral cleft palate]]
| International Classification of Diseases code 749.1 for isolated cleft lip and 749.2 for cleft lip with cleft palate
* Australian national rate (1982-1992) 8.1 - 9.9 /10,000 births.
* Of 2,465 infants 6.2% were stillborn and 7.8% liveborn died during neonatal period.
* rate similar in singleton and twin births.
|}

===Cleft Palate===
{|
| [[File:cleft_palate.jpg|200px|Cleft palate]]
| International Classification of Diseases code 749.0
* Australian national rate (1982-1992) 4.8 - 6 /10,000 births.
* Of 1,530 infants 5.5% were stillborn and 11.5% liveborn died during neonatal period.
* slightly more common in twin births than singleton.

|}

(Data: Congenital Malformations Australia 1981-1992 P. Lancaster and E. Pedisich ISSN 1321-8352)

==Fetal Alcohol Syndrome (FAS)==
{|
| [[File:FASface.jpg|300px]]
|
The following facial features may be associated with FAS

* Microcephaly - leads to small head circumference
* Palpebral fissure - short opening of eye
* Epicanthal folds - fold of skin at inside of corner of eye
* Midface - flat
* Nasal Bridge - low
* Philtrum - Indistinct, vertical grooves between nose and mouth
* Upper Lip - thin
* Micrognathia - small jaw
* Ears - curve at top part of outer ear is underdeveloped and folded over parallel to curve beneath. Gives the appearance of a "railroad track"
|-
| Fetal Alcohol Syndrome face appearance
|
|}

==Auricular Abnormalities==

[[File:Pre-auricular fistulae and appendage locations.jpg|600px]]

<gallery>
File:Microtia.jpg|Microtia
File:Preauricular sinus.jpg|Preauricular sinus
File:Preauricular_tag_01.jpg|Preauricular tag
File:Preauricular_tag_02.jpg|Preauricular tag
</gallery>

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

Acephaly (absence of head)
Exencephaly (brain outside skull)
Macrocephaly (large head)
Micrencephaly (small brain)
Otocephaly (absence of lower jaw)
Brachycephaly (premature fusion of coronal suture)
Oxycephaly (premature fusion of coronal suture + other)
Plagiocephaly (premature unilateral fusion of coronal or lambdoid sutures)
Scaphocephaly (premature fusion of sagittal suture)

==Additional Information==

The following links cover abnormalities of these systems in more detail.

:'''Links:''' [[Head_Development_-_Abnormalities|Head Abnormalities]] | [[Musculoskeletal_System_-_Skull_Development#Abnormal_Synostosis|Skull Abnormal Synostosis]] | [[Sensory_-_Hearing_Abnormalities|Hearing Abnormalities]] | [[Sensory_-_Vision_Abnormalities|Vision Abnormalities]]

{{ANAT2341Lab6}}

{{Glossary}}
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ANAT2341 Lab 6 - Abnormalities - Revision history

Z8600021 at 00:32, 10 September 2014

Z8600021 at 00:32, 10 September 2014

Z8600021: Created page with "{{ANAT2341Lab6}} ==Pharyngeal Abnormalities== The four different types of pharyngeal abnormalities are relatively rare. Sinuses - a pharyngeal groove defect, when a portion..."