BGDB Face and Ear - Abnormalities

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Practical 6: Trilaminar Embryo | Early Embryo | Late Embryo | Fetal | Postnatal | Abnormalities



Pharyngeal Abnormalities

There are 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.

Embryo Cleft Lip and Palate

Embryonic clefting, ventral view (stage16)

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

Embryonic

Primary palate, fusion in the human embryo between week 6-7 (GA Week 8-9, stage 17 and 18), maxillary component of the first pharyngeal arch and the frontonasal prominence (philtrum) fuse from an epithelial seam to the mesenchymal bridge.

Fetal

Secondary palate, fusion in the human embryo in week 9-10 (GA week 11-12). Maxillary component of the first pharyngeal arch form lateral palatal shelves in the oral cavity that grow, elevation and fuse during this early fetal period. The fusion event is to both each other and the primary palate.

Fetal Cleft Ultrasound Movies

Cleft lip 01.jpg

Cleft lip 02.jpg
 ‎‎Cleft Lip 15 Week
Page | Play
Cleft lip 01.jpg
 ‎‎Cleft Lip 18 Week
Page | Play
Movie shows a cleft lip in an 13 week (GA 15 weeks) fetus. 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 + +)

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.

Stage16 cleft palate

Cleft Lip

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

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)

FASface.jpg

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

First Arch Syndrome

Pierre Robin sequence

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: Medline Plus - Pierre Robin Syndrome | Medline Plus - Treacher Collins Syndrome


Auricular Abnormalities

Pre-auricular fistulae and appendage locations.jpg

Additional Information

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, also known as turricephaly (premature fusion of coronal suture + other)
  • Plagiocephaly (premature unilateral fusion of coronal or lambdoid sutures)
  • Scaphocephaly, also known as dolichocephaly (premature fusion of sagittal suture)
  • Trigonocephaly (premature fusion of metopic suture)
Abnormal Neonatal Skull (CT)
Skull CT abnormal 01.jpg

Scaphocephaly (Dolichocephaly)

Skull CT abnormal 02.jpg

Coronal Synostosis

Skull CT abnormal 03.jpg

Anterior Plagiocephaly

Skull CT abnormal 04.jpg

Oxycephaly (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
Links: Head Abnormalities | Skull Abnormal Synostosis | Hearing Abnormalities | Vision Abnormalities


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Practical 6: Trilaminar Embryo | Early Embryo | Late Embryo | Fetal | Postnatal | Abnormalities




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BGDB: Lecture - Gastrointestinal System | Practical - Gastrointestinal System | Lecture - Face and Ear | Practical - Face and Ear | Lecture - Endocrine | Lecture - Sexual Differentiation | Practical - Sexual Differentiation | Tutorial


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Cite this page: Hill, M.A. (2021, June 14) Embryology BGDB Face and Ear - Abnormalities. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/BGDB_Face_and_Ear_-_Abnormalities

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© Dr Mark Hill 2021, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G