Pediatrics Recalls By Subject – Genetics

A 16-year-old boy presents with gynecomastia. He is 1.85m tall (>97%) and his testicles are at a pre-puberty volume.

Which of the following is the most probable diagnosis?

A 3-year-old male is followed up for being under the 3rd height percentage. He has polydipsia and polyurea, with high serum sodium and normal glucose. Examination reveals the finding in the photo below, and MRI reveals an ectopic posterior hypophysis.

Which of the following is the most likely diagnosis?

Which of the following genetic aberrations is responsible for fragile X syndrome?

Karyotype testing is performed as part of a workup of a teenager with delayed puberty and reveals 47XXY.

Which of the following physical findings is typical for this boy’s condition?

A 1-year-old is referred for work up due to failure to thrive. History is positive for a few episods of infection, and multiple stools with steatorrhea. Laboratory tests are presented in the table.

Which of the following is the most appropriate treatment?

 A 14-year-old boy presents with developmental delay and learning difficulties. Examination reveals elongated face, micropenis, and large testicles.

Which of the following is the most likely diagnosis?

Which of the following is indicated in the routine workup of a child with a new diagnosis of autism spectrum disorder with no additional neurological or physical findings?

In which of the following syndromes is the finding in the picture the most common?

A 14-year-old boy is evaluated due to hearing loss and myoclonic seizures appearing over the last 6 months. Up until then he was well, with normal development. His maternal aunt died of progressive dementia and ataxia at the age of 37. His maternal grandmother was diagnosed with diabetes and hearing loss and died at the age of 80 years. Examination reveals short stature, cachexia, ataxia and myoclonus. Laboratory results are significant for elevated serum and cerebrospinal fluid lactate. Which of the following genetic tests will be the most helpful with this patients’ diagnosis?

A 2-day-old small for gestational age newborn has the features demonstrated in the picture.
Prenatal ultrasound was not performed. Echocardiography reveals a bicuspid aortic valve.

Which of the following symptoms is common in the newborn’s most likely diagnosis?

The 4-year-old child in the picture is developmentally delayed. Examination reveals an early systolic ejection click, and he has

hypercalcemia, failure to thrive, and hypothyroidism.

Which of the following is the boys’ most probable heart defect?

Examination of the boy in the picture reveals a holosystolic apical murmur.

He has oxygen saturation of 97% in room air.

Which of the following is most likely this patients’ congenital heart defect?

A 8-year-old male (image below), examined in the clinic due to neck pain and torticollis.

Which of the following situations is typical of his disease?

A systolic murmur was heard during a random examination of a 13-year-old female. In the physical examination, a finding of pectus excavatum was demonstrated. In the ECG, biphasic T waves were observed in several leads. What is the likely diagnosis of the girl?

A two-month-old male presented in the ER following a fever and a cough. On examination, he has a cleft palate. A chest x-ray demonstrated opacity at the base of the left lung and the absence of the thymus. Which of the following laboratory tests would advance the presumed diagnosis?

Which of the following is an indication for growth hormone treatment?

The toddler in the photo below has been born at term. He was diagnosed with VSD shortly after birth, and the defect was surgically treated. In addition, he has been diagnosed with congenital hypothyroidism by newborn screening , and is treated with L-thyroxin.

Which of the following has increased incidence in this boy’s condition?

An 8-year-old boy presents with recurrent (6 up until now) of fever, abdominal and chest pain. The photo below reveals the finding on examination

Which of the following is a risk factor for complication in this disease?

A 5-year-old male began walking at the age of 1.8 years; his parents report clumsy gait, difficulty going up and down stairs, and difficulty transitioning from sitting to standing. On physical examination – bilateral calf hypertrophy. In laboratory tests, CPK values around 3000 in several tests. Family history – brother with a similar history.

Which of the following findings is common in the toddler’s diagnosis?

A 3-year-old female is diagnosed with cleft palate, language delay, and motor delay. In the background, she has recurrent respiratory tract infections. Blood tests reveal hypocalcemia
What is recommended as part of the follow-up for her likely diagnosis?

What is the most important reason for performing a chromosome test in a child suspected of having Down syndrome?

A 12-year-old female presents with short stature, wide chest, and lack of pubertal development (image attached).

Which of the tests is most likely to be included as part of her monitoring?

A one year and nine month-old boy is brought to the doctor’s office for examination because he has not started walking yet and he is also not standing independently yet. Background: two episodes of long-bone fractures due to minor traumas. Examination: the findings in the image and also joint hypermobility. No findings are suggestive of abuse.

Which of the following diagnoses is the most likely?

A 9-month-old boy has had cough, soft stools and failure to thrive for about 3 months. A high level of chlorine was measured in a sweat test. Which gene is highly likely to be related to the boy’s disease?