QuestionSBA
QuestionChoice
This is incorrect. Edward's syndrome is a genetic condition that has an extremely low life expectancy with most babies affected not living past their 1st birthday. The key features of Edward's syndrome include micrognathia, low-set ears, rocker bottom feet and overlapping of fingers.
10004423
c
Edward's syndrome
QuestionChoice
This is correct. Turner's syndrome results when one of the X chromosomes is missing (XO). This results in a range of problems including a short height, heart defects and failure of the development of ovaries. A webbed neck and a high-arched palate are commonly seen in Turner's syndrome.
10004421
a
Turner's syndrome
QuestionChoice
This is incorrect. William's syndrome is a developmental disorder due to microdeletion on chromosome 7 that causes mild to moderate intellectual disability, learning problems and short stature. Other features include elfin-like facies, a very friendly personality and supra-valvular aortic stenosis.
10004425
e
William's syndrome
QuestionChoice
This is incorrect. Androgen insensitivity syndrome is when a person has the genotype of a male (XY) but the phenotype of a female due to a lack of function of androgens. This would present as a female with a lack of starting periods along with little or no axillary and pubic hair. On examination, there may be groin swellings indicative of undescended testes. In this case, the short stature, webbed neck and high-arched palate are suggestive of Turner's syndrome.
10004424
d
Androgen insensitivity syndrome
QuestionChoice
This is incorrect. Although Noonan syndrome also presents with a webbed neck, short stature and potentially delayed secondary sexual characteristics, it is less likely in this case than Turner's syndrome. Additionally, other features of Noonan syndrome are not present such as pulmonary stenosis and pectus excavated.
10004422
b
Noonan syndrome
Concept
Chapter
2693
4285
Pubertal disorders
Topic
214
Reproduction
13431
A 17-year-old girl presents to the GP worried about not starting her period yet. On examination, she has a short stature, a webbed neck and a high-arched palate.

Which of the following syndromes is she likely to have?
a