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Quiz about Craniofacial Anomalies
Quiz about Craniofacial Anomalies

Craniofacial Anomalies Trivia Quiz


A smattering of questions over various craniofacial disorders.

A multiple-choice quiz by napkintosh. Estimated time: 6 mins.
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Author
napkintosh
Time
6 mins
Type
Multiple Choice
Quiz #
86,733
Updated
Dec 03 21
# Qns
10
Difficulty
Difficult
Avg Score
4 / 10
Plays
727
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Question 1 of 10
1. What is the name of the defective gene responsible for Treacher Collins Syndrome? Hint


Question 2 of 10
2. In which of these craniofacial disorders is one side of the face substantially smaller than the other? Hint


Question 3 of 10
3. What shape does the skull take on in Kleeblattschadel? Hint


Question 4 of 10
4. "Mitten hands," or a webbing of several adjacent fingers, is common to which craniofacial anomaly? Hint


Question 5 of 10
5. In the United States, the total incidence of craniosynostosis (premature closure of cranial sutures) is about 0.04%. Which suture is the most commonly fused? Hint


Question 6 of 10
6. Distraction osteogenesis, the technique by which an unusually tiny jaw is lengthened, was first used to combat bone problems in the leg by a doctor from what country? Hint


Question 7 of 10
7. In which disease would you find an afflicted male with a small head, deep-set eyes, a bulbous nose, broad eyebrows, redundant skin, and cartilaginous prominences over the surface of various bones? Hint


Question 8 of 10
8. While most craniofacial anomalies result from premature closure of the sutures, there is a condition in which the sutures close much later than would be expected. Perhaps the most well-known case involves a Chinese immigrant in South Africa who had seven wives, passing on this bizarre disorder to many of his offspring. What was his name? Hint


Question 9 of 10
9. In what group of people is the retention of the metopic suture (runs straight down the forehead) most prevalent? Hint


Question 10 of 10
10. The first discussion of craniosynostoses was published by von Sömmering in the latter part of which century? Hint



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Quiz Answer Key and Fun Facts
1. What is the name of the defective gene responsible for Treacher Collins Syndrome?

Answer: Treacle

Treacher Collins Syndrome (mandibulofacial dysostosis) is characterized by an almost complete absence or malformation of the ear, hearing loss, and a tiny jaw. The "treacle" gene is also known as TCOF1, and is located on the long arm of Chromosome 5.
2. In which of these craniofacial disorders is one side of the face substantially smaller than the other?

Answer: Goldenhar Syndrome

Goldenhar Syndrome is also known as hemifacial microsomia and is associated with cardiovascular, pulmonary, skeletal, and genitourinary problems. It is slightly more prevalent in males, and most cases are sporadic. This disease should not be confused with Parry Romberg Syndrome, which is a progressive withering of one half of the face.
3. What shape does the skull take on in Kleeblattschadel?

Answer: Cloverleaf

This cumbersome term is used to describe a skull in which there is premature fusion of all but the metopic and squamosal sutures.
4. "Mitten hands," or a webbing of several adjacent fingers, is common to which craniofacial anomaly?

Answer: Apert Syndrome

In 1960, C. E. Blank categorized 54 patients in the UK into "classical" Apert Syndrome, and an atypical group with similar features. The only differentiation between the two groups is "classical" sufferers have a "mitten hand" deformity with a large, shared fingernail between some of the digits.
5. In the United States, the total incidence of craniosynostosis (premature closure of cranial sutures) is about 0.04%. Which suture is the most commonly fused?

Answer: Sagittal

The sagittal suture is closed in about 50-58% of all cases, resulting in scaphocephaly (a "boat shaped" head). The second most commonly fused is the coronal (20-29%), followed by the metopic (4-10%) and the lambdoidal (2-4%).
6. Distraction osteogenesis, the technique by which an unusually tiny jaw is lengthened, was first used to combat bone problems in the leg by a doctor from what country?

Answer: Russia

In this procedure, the mandible is cut, pins installed, and a "distraction rod" implanted outside the jaw. This rod is turned gradually over a few weeks until the bone has reached the desired length. The parent procedure was developed by Dr. Ilizarov.
7. In which disease would you find an afflicted male with a small head, deep-set eyes, a bulbous nose, broad eyebrows, redundant skin, and cartilaginous prominences over the surface of various bones?

Answer: Langer-Giedion Syndrome

These distinctive facial characteristics, cartilaginous protuberances, and cone-shaped epiphyses (the growing ends of a bone) are always present in Langer-Giedion Syndrome. It is caused by a deletion on the long arm of Chromosome 8.
8. While most craniofacial anomalies result from premature closure of the sutures, there is a condition in which the sutures close much later than would be expected. Perhaps the most well-known case involves a Chinese immigrant in South Africa who had seven wives, passing on this bizarre disorder to many of his offspring. What was his name?

Answer: Arnold

In 1951, it was estimated that about 70 of Arnold's 356 descendants had the so-called "Arnold head." Now over 1,000 have this "cleidocranial dysplasia," which results in persistently open sutures, short stature, and unusual teeth.
9. In what group of people is the retention of the metopic suture (runs straight down the forehead) most prevalent?

Answer: Europeans

The International Trepanation Advocacy Group (trepan.com) calls this something like a "third-eye." They also have a section on "How to ask your doctor for a hole in the head."
10. The first discussion of craniosynostoses was published by von Sömmering in the latter part of which century?

Answer: 18th

Von Sömmerring published his findings in 1791, and was echoed in subsequent years by the likes of Otto, Virchow, and Moss. Astonishing advances have been made in the treatment and support of sufferers and their families, perhaps most notably Operation Smile (operationsmile.org), a non-profit, volunteer-based medical organization that provides surgery for impoverished children with cleft palate.
Source: Author napkintosh

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