A 10-year-old boy is brought to the physician by his parents for a follow-up examination. He has had a short stature since birth and underwent diagnostic testing. Genetic analyses showed a gain of function mutation in the fibroblast growth factor receptor 3 (FGFR3) gene. He has met all developmental milestones. He is at the 10th percentile for height and 90th percentile for weight. Which of the following additional findings is most likely on physical examination?
AFrontal bossing
BAbsent collar bones
CLong extremities
DBlue sclerae
ESmall genitalia
A 6-year-old girl is brought to the physician by her parents because of concern that she is the shortest in her class. She has always been short for her age, but she is upset now that her classmates have begun teasing her for her height. She has no history of serious illness and takes no medications. She is 109 cm (3 ft 7 in) tall (10th percentile) and weighs 20 kg (45 lb) (50th percentile). Her blood pressure is 140/80 mm Hg. Vital signs are otherwise within normal limits. Physical examination shows a low-set hairline and a high-arched palate. Breast development is Tanner stage 1 and the nipples are widely spaced. Extremities are well perfused with strong peripheral pulses. Her hands are moderately edematous. This patient is at increased risk of developing which of the following complications?
APrecocious puberty
BAcute lymphoblastic leukemia
CEctopia lentis
DRenal cell carcinoma
EAortic insufficiency
A 19-year-old woman presents to her gynecologist’s office stating that she has never had a period. She is slightly alarmed because most of her friends in college have been menstruating for years. She is also concerned about her short stature. When she previously visited her family physician during early puberty, she was told that she will gain the appropriate height during her final teenage years. However, over the past few years, she has gained only a couple of inches. On examination, she has a wide chest and short neck. Her breast development is at Tanner stage 1. Her external genitalia is normal with sparse hair distribution over the mons pubis. Her gynecologist suspects a genetic condition and sends her for genetic counseling. Based on her clinical findings, which of the following diseases is she most likely to develop?
ACystic medial necrosis
BCoarctation of aorta
CSupravalvular aortic stenosis
DIntellectual disability
EEndocardial cushion defects
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