1) . A neonate is noted to have an abnormally shaped face with a very small jaw. Several hours after birth, the baby develops convulsions and tetany. Serum... [Show More] chemistries show the following: Sodium 1 40 mEq/L, Potassium 4 mEq/L, Chloride 100 mEq/L, Bicarbonate 24 mEq/L, Magnesium 2 mEq/L, Calcium 5 mg/dL, Glucose 100 mg/dL. This child's disorder is associated with aplasia or hypoplasia of which of the following organs?
Ovaries Pancreas Pituitary Thymus Thyroid
2) 16 An 18-month-old child is brought to the emergency department by his mother due to a one-day history of lethargy and anorexia. He had a fever the whole day yesterday, which responded to Tylenol (Acetaminophen). He then developed a petechial rash over his entire body, which worsened in the last few hours. He is up-to-date with his immunizations, and is an otherwise healthy baby. On examination, he is drowsy and lethargic. He has neck stiffness and appears septic. He flexes his hips when his neck is flexed. What is the most likely organism responsible for the patient's symptoms?
Meningococcus Haemophilus influenza Cytomegalo virus Borrelia burgdorferi Listeria monocytogenes
3) 6-month-old male is brought to the office due to fussiness and tugging at his right ear for the past 2 days. He has had a fever of 39.4° C (103° F) for the past 2 days. His past medical history is significant for recurrent ear and lung infections, oral candidiasis, and persistent diarrhea by rotavirus. His temperature is 39.4° C (103° F), pulse rate is 150/min, respirations are 28/min, and blood pressure is 80/60mm Hg. Physical examination reveals an erythematous, bulging right tympanic membrane with poor mobility on pneumatic otoscopy. His lymph nodes are not palpable, and his tonsils are not visualized. His B and T lymphocyte levels are markedly reduced. The chest x-ray reveals an absent thymic shadow. What is the most likely etiology of this patient's condition?
. Severe combined immune deficiency
. Common variable immunodeficiency
. Bruton's agammaglobulinemia
. Wiskott-Aldrich syndrome
. Chronic granulomatous disease
4) A 1-day-old boy is evaluated in the nursery for minimal right arm movement. He was born at 41 weeks gestation to a woman with poorly controlled type 1 diabetes mellitus. Attempted vaginal delivery was complicated by shoulder dystocia and became a cesarean section delivery. Family history is positive for obesity in the boy's father and osteoporosis in both grandmothers. Birth weight was 4.5 kg. Examination shows crepitus and irregularity over the right clavicle. Moro reflex is absent on the right. Bilateral biceps and grasp reflexes are intact and symmetric. The infant is plethoric and has excessive fat accumulation in the abdominal and scapular regions. The remainder of the examination is normal. Which of the following is the most significant risk factor for this patient's condition?
Brachial plexus injury
Family history of osteoporosis
In utero cerebrovascular accident Maternal history of diabetes Osteogenesis imperfecta
5) A 1-day-old infant appears dusky in the newborn nursery during feeding. Oxygen is immediately administered by nasal cannula. Shortly afterward, she develops tachypnea. On physical examination, her blood pressure from the right upper arm is 50/30 mm Hg, her pulse is 180/min, and her respirations are 60/min. An echocardiogram is consistent with hypoplastic left heart syndrome. Which of the following would likely be found on auscultation?
. Continuous ductal murmur, bounding pulses
. Continuous ductal murmur, poor peripheral pulses
. Holosystolic murmur, poor peripheral pulses, quiet second heart sound
. No murmur, precordial hyperactivity, loud second heart sound
. No murmur, precordial hyperactivity, quiet second heart sound
6) A 1-week-old female infant is brought to the office by her 30-year-old African-American mother because she has been "crying a lot." She was born at term. Her mother was diagnosed with gestational diabetes mellitus (GDM) at 24 weeks gestation and had been on insulin injections since. During labor, there was a prolonged second stage due to difficulty in delivering the shoulders. Her Apgar scores were 8 and 10 at 1 and 5 minutes, respectively. Her birth weight is 3.8 kg (8.5 Ib). On examination, the infant is active. On sudden extension of the head, there is extension of all the extremities, except for the left upper extremity. There is crepitus over the left clavicular bone. Which of the following statements is true for this baby?
This infant has clavicular fracture and should be treated with a figure of eight bandage This is a clavicular fracture and the infant should be evaluated for child abuse
This is Erb Duchenne palsy due to difficult shoulder delivery
This is a common outcome with large babies and related to gestational diabetes This infant has clavicular fracture and should be treated with a surgery
7) A 1-week-old infant is brought to the emergency department due to vomiting and poor feeding. The prenatal and birth histories are unremarkable. The infant's pulse is 140/min, temperature is 37 C (98.7 F), and capillary refill is 2 sec. He has sunken eyes, depressed anterior fontanel, and dry mucus membranes; skin elasticity is reduced. Heart and lungs are clear. There is no abdominal mass. Genital examination shows enlarged clitoris, and fusion of the labioscrotal folds. The initial laboratory work-up reveals the following: Sodium 128 mEq/L, Potassium 5.8 mEq/L, BUN 25 mg/dl. If this patient's karyotype is 46 XX, which of the following is most likely to be increased in this patient's serum?
17 -alpha-hydroxyprogesterone 18-hydroxycorticosterone
11-deoxycorticosterone 11-deoxycortisol Corticosterone
8) A 1-week-old male newborn is seen in the office for "noisy breathing." The mother says that the "noisy breathing" is more prominent when the infant is lying on his back, and improves when he is in a prone position with his chin up. The newborn is afebrile and has no cough, vomiting, or cyanosis. There are no inspiratory retractions or wheezes. On direct laryngoscopy, the epiglottis is rolled in from side to side. Which of the following statements is true about the child's condition?
. The child should be held in an upright position for 30 minutes after feeding and never fed while lying down
. The child requires immediate tracheostomy
. The child should be treated with intravenous ceftriaxone
. The child's condition is likely to deteriorate as the age advances
. In this condition the stridor improves when the child cries
9) A 1-year-old boy is brought to the physician by his parents for evaluation of bruising and blood in his stool. The child has had multiple episodes of otitis media and has been hospitalized twice with pneumonia, but has never had bleeding or easy bruising in the past. He has been eating and drinking well with no vomiting or diarrhea. He is afebrile with a heart rate of 150/min and a blood pressure of 80/40 mmHg. On examination, he is
well-developed, well-nourished, and has a fair complexion. There are dry, scaly patches on his cheeks and lower extremities. He also has bruising and purpura on his lower extremities. His diaper contains a small amount of occult blood positive stool, but no fissures are seen on rectal examination. The remainder of the physical examination is unremarkable. Laboratory studies show: Complete blood count: Hemoglobin 11 .5 g/dL, Platelet count 20,000/mm3, Leukocyte count 6,500/mm3, Neutrophils 76%, Eosinophils 1%, Lymphocytes 13%, Monocytes 10%. A peripheral smear reveals a low number of platelets, and the platelets that are seen are small. Which of the following is the most likely cause of his bleeding?
. Bone marrow infiltration
. Platelet antibodies
. Nutritional deficiency
. Platelet activation and consumption
. Impaired platelet production
10) A 1-year-old boy presents with the complaint from his parents of “not developing normally.” He was the product of an uneventful term pregnancy and delivery, and reportedly was normal at birth. His previous health-care provider noted his developmental delay, and also noted that the child seemed to have an enlarged spleen and liver. On your examination, you confirm the developmental delay and the hepatosplenomegaly, and also notice that the child has short stature, macrocephaly, hirsutism, a coarse facies, and decreased joint mobility. Which of the following is the most likely etiology of his condition?
. Beckwith-Wiedemann syndrome
. Crouzon syndrome
. Trisomy 18 (Edwards syndrome)
. Jeune syndrome
. Hurler syndrome [Show Less]
