ANAT2341 Lab 10 - Abnormalities

From Embryology
ANAT2341 Lab 10: Introduction | Early Embryo | Late Embryo | Fetal | Postnatal | Abnormalities | Online Assessment

Sensory Abnormalities: Hearing | Vision |

Hearing

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

Auricular Abnormalities

Pre-auricular fistulae and appendage locations.jpg

Smell Abnormalities

Anosmia

  • Term used to describe having no sense of smell.
  • Anosmia/hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts.

Kallmann Syndrome

  • A developmental disease affecting both the hormonal reproductive axis and the sense of smell.
  • Affected individuals have mutations in either of two different genes KAL1 and FGFR1 (20%) and prokineticin receptor-2 (PROKR2) or prokineticin-2 (PROK2) genes (10%).


Links: GeneReviews - Kallmann Syndrome | Genetics Home Reference

Choanal Atresia

Choanal atresia computed tomography[1]
  • Choanal atresia is the most common form of congenital nasal obstruction, usually diagnosed at birth.[1]
  • failure of the posterior nasal cavity (choanae) to communicate with the nasopharynx.
  • unilateral or bilateral bony membranous septum located between the nose and the pharynx.
  • occurs in approximately 1 in 5000 to 7000 live births.
  • Thought to be secondary to an abnormality during the rupture of the buccopharyngeal membrane in the embryological period.

References

  1. 1.0 1.1 <pubmed>21772853</pubmed>
ANAT2341 Lab 10: Introduction | Early Embryo | Late Embryo | Fetal | Postnatal | Abnormalities | Online Assessment

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Cite this page: Hill, M.A. (2019, August 18) Embryology ANAT2341 Lab 10 - Abnormalities. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/ANAT2341_Lab_10_-_Abnormalities

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© Dr Mark Hill 2019, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G