Term
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Definition
| Lack of smell (anosmia) and hypogonadism resulting from failure of olfactory nerve and GnRH neurons to migrate to hypothalamus. |
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Term
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Definition
| Tumor due to malignant transformation of ectopic cells left behind by Rathke's pouch (gives rise to ant. pituitary). Contains deposits of calcium which can show in x-rays. |
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Term
| The parafollicular cells of the thyroid gland come from what? |
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Definition
| The ultimobranchial organ from the 4th pouch. |
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Term
| Develops into inner ear structures? |
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Definition
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Term
| What gene has a mutation with aniridia? |
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Definition
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Term
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Definition
| The choana (passage between nasal and mouth) gets blocked off. |
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Term
| What separates in detached retina? |
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Definition
| Neural retina from pigment epithelium. |
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Term
| What in eye comes from neural tube? |
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Definition
| Nerve, retina (both pigment layer and neural layer), ciliary epithelium and processes, pupil muscles, post. layer of the iris |
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Term
| What in eye comes from mesoderm? |
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Definition
| Sclera, choroid, ciliary muscles, outer part (stroma) of iris, most of the cornea, and the vitreous body. |
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Term
| What in eye comes from ectoderm? |
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Definition
| The lens (from lens placode), and a thin layer over the cornea |
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Term
| Where does the optic nerve/vesicle develop from? |
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Definition
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Term
| What is and causes coloboma? |
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Definition
| It is when a missing piece of iris gives keyhole appearance to the pupil. It's caused by the choroid fissure not closing properly. |
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Term
| Rubella is associated with what defects? |
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Definition
| Glaucoma, cataracts, deafness, and cardiac anomalies. |
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Term
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Definition
| Defect where eye is missing. Can be from Shh errors (midline). |
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Term
| What is the sinus venosus sclerae and what happens if it is malfunctioning? |
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Definition
| It's also called the canal of Schlemm. It drains the eye. When defective, glaucoma results. |
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Term
| What is retrolental fibroplasia and what are two things it's been linked to? |
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Definition
| Type of retinopathy caused by overgrowth of blood vessels causing detached retina and blindness in premature infants. Linked to premature birth and high oxygen levels in incubators. |
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Term
| What does the otic placode(pit) give rise to? |
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Definition
| The otic vesicle and then the hearing and balancing structures of the ear. |
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Term
| What arches do the ear bones come from? |
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Definition
Incus and malleus - 1st arch
Stapes - 2nd arch |
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Term
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Definition
| Stunted mental and physical grown due to insufficient thyroid hormone, usually in the mother and caused by iodine deficiency. Appearance is similar to that of down syndrome. |
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Term
| What do the pharyngeal pouches give rise to? |
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Definition
1st - middle ear
2nd - palatine tonsils
3rd - thymus and inf. parathyroid glands
4th - sup. parathyroid glands and ultimobranchial body |
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Term
| Lingual thyroid is caused by what? |
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Definition
| Failure of thyroid to migrate from the foramen cecum. |
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Term
| Thyroglossal cyst/fistula is what? |
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Definition
| Persistance of the duct for thyroid formation in the midline. Often becomes swollen later in life. |
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Term
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Definition
| Caused by a small deletion on chromosome 22. Results in 3rd and 4th pouch defects. Presents with lack of thymus, parathyroid hypoplasia, and hypocalcemia. |
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Term
| Brownish pigmenting of tooth can be from? |
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Definition
| Florosis, or also tetracycline (antibiotic) or bilirubinemia during pregnancy. |
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Term
| Teeth have grooves in them? |
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Definition
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Term
| Spina bifida is caused by? Prevented by? |
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Definition
| The posterior neuropore doesn't close. Folate. |
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Term
| Anencephaly is caused by? |
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Definition
| The anterior neuropore not closing. |
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Term
| High alpha-fetal protein is associated with what? |
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Definition
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Term
| Extra hillocks will give you what? |
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Definition
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Term
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Definition
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Term
| Where is the spinal cord at birth? |
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Definition
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Term
| Cleft lip is more common when? |
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Definition
| Trisomy 13, male, asian, mother is on anticonvulsants |
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Term
| Treacher Collins syndrome |
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Definition
| Missing/small cheek bones, cleft palate, droopy and big eyes, wide mouth, small/missing ears, small jaw. |
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Term
| Arnold–Chiari malformation |
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Definition
| The cerebellar tonsils are displaced posteriorly through the foramen magnum causing non-communicating hydrocephalus. |
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