2011 Lab 10 - Abnormalities

Sensory Abnormalities: Hearing | Vision |

Hearing

Fetal Alcohol Syndrome (FAS)

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

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  Microtia

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  Preauricular sinus

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  Preauricular tag

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  Preauricular tag

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

• Choanal atresia is the most common form of congenital nasal obstruction, usually diagnosed at birth.
• 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.

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Cite this page: Hill, M.A. (2024, April 19) Embryology 2011 Lab 10 - Abnormalities. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/2011_Lab_10_-_Abnormalities

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© Dr Mark Hill 2024, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G