Pediatrics Recalls By Subject – Syndromes

A 13-year-old female has underlying celiac disease and hypothyroidism. Examined due to short stature. At examination: short and thick neck, distant nipples, and wide chest.

Which cardiac finding is most typical of the girl’s condition?

A 15-year-old girl suffering from Turner syndrome with bicuspid aortic valve complains of pain after exertion in both legs. Chest x-ray and ECG demonstrate signs consistent with left ventricular hypertrophy. Femoral pulse is not palpable.
Which of the following signs would most likely support the etiology for her condition?

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 5-day-old male, referred to the emergency room due to a seizure that stopped after the administration of Dormicum (Midazolam). On examination – no fever, alert, normotensive fontanel, cleft palate and small ears, systolic murmur on auscultation to the heart. On initial laboratory tests ionized calcium 0.6 (low). An echocardiogram demonstrated a Truncus Arteriosus type defect. Which test is highly likely to identify the underlying genetic disorder in the baby’s diagnosis?

The following image describes a 16-year-old girl with short stature, and complaints of hearing loss, who is under cardiac follow-up.

What is the most likely diagnosis?

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

A 12-year-old boy presents with fatigue and malaise that have recently become worse, followed by dyspnea.

His mother reports episodes of cyanosis following light physical activity. He has been followed up by a cardiologist due to a VSD until 2 years of age, and the follow up was discontinued since they moved. Chest X-ray demonstrates an enlarged heart

silhouette, and enlargement of the pulmonary artery.

Which of the following is the most appropriate treatment for this patient?

Which of the following is characteristic of Horner’s syndrome?

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

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?

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?

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?

A 15-year-old boy presents with a few months of deteriorating hearing. Hearing tests reveal bilateral sensoneuronal deficit.
The boy reports recurrent episodes of hematuria, and a maternal uncle with similar symptoms.
Which of the following is the 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?

 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?

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?

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

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 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?

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 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?

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?

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

Female, 6 days old, normal gestation and delivery. She was admitted to the ER by the parents due to impression of cyanosis in the legs, dyspnea, loss of appetite and low urine output. Upon examination – cyanosis in the lower body part, dyspnea, systolic murmur in the LSB, palpated femoral pulses are reduced bilaterally.

Which of the following syndromes is linked at a higher frequency to the described heart defect?