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Flashcards in VII - Genetic and Pediatric Diseases Deck (184)
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151

Single most important cause of primary amenorrhea

Turner syndrome (TOPNOTCH)Robbins Basic Pathology, 9th ed., p. 166

152

Most important cause of increased mortality in children with Turner syndrome.

Cardiovascular abnormalities (TOPNOTCH)Robbins Basic Pathology, 9th ed., p. 166

153

Patient presents with mental retardation, long face with large mandible, large everted ears, and large testicles. The most likely diagnosis is:

Fragile X Syndrome (TOPNOTCH) Robbins Basic Pathology, 9th ed., p. 169

154

Most distinctive feature of Fragile X syndrome

Macro-orchidism(TOPNOTCH) Robbins Basic Pathology, 9th ed., p. 169

155

The neonate was noted to have microcephaly, short palpebral fissure, maxillary hypoplasia, growth retardation, and psychomotor disturbances. The mother denies intake of drugs during pregnancy. The most likely cause

Alcohol (TOPNOTCH)

156

Deficiency in homogentisic oxidase results in this condition which manifests black discoloration of the urine

Alkaptonuria (TOPNOTCH)

157

Most common cause of respiratory distress in the newborn

Hyaline Membrane Disease (TOPNOTCH) Robbins Basic Pathology, 9th ed., p. 457

158

This teratogenic drug disrupts expression of homeobox proteins implicated in the patterning of lims, vertebrae, and craniofacial structures.

Valproic acid (TOPNOTCH) Robbins Basic Pathology, 9th ed., p. 456

159

Most commonly responsible for fetal growth restriction.

TORCH infections (TOPNOTCH) Robbins Basic Pathology, 9th ed., p. 457

160

Most common maternal condition associated with SGA infants

Vascular diseases (chronic hypertension, preclampsia) (TOPNOTCH) Robbins Basic Pathology, 9th ed, p. 457

161

A 28 week old male delivered via CS by a diabetiic mother presented with dyspnea and cyanosis. Fine rales are heard over both lung fields. CXR revealed uniform minute reticulogranular densities, producing a ground glass appearance. The fundamental defect in this condition is:

Pulmonary surfactant (Case of RDS) (TOPNOTCH)

162

The most common cause of mortality in children ages 1-4 years old.

Accidents (TOPNOTCH) Robbins Basic Pathology, 9th ed., p. 452

163

A 28 week old male dies 20 hours after birth. Autopsy findings showed a solid, airless, and reddish purple lungs with poorly developed alveoli. Necrotic cellular debris incorporated within eosinophilic hyaline membranes lines the respiratory bronchioles, alveolar ducts and alveoli. The most likely cause of death of the neonae is:

Respiratory distress syndrome/Hyaline membrane disease (TOPNOTCH)

164

Premature infant, bottle-fed, developed bloody stool, abdominal distention. Abdominal radiograph showed pneumotis intestinalis. Diagnosis:

Necrotizing enterocolitis(TOPNOTCH)

165

Morphology: intestinal segment is distended, friable and congested, with transmural coagulative necrosis, ulceration, bacterial colonization, and submucosal bubbles.

Necrotizing enterocolitis(TOPNOTCH)

166

Most common cause of early-onset neonatal sepsis and early-onset bacterial meningitis

Group B streptococcus(TOPNOTCH) Robbins Basic Pathology, 9th ed., p. 460

167

The most serious threat of fetal hydrops

CNS damage -kernicterus (TOPNOTCH) Robbins Basic Pathology, 9th ed., p. 463

168

Most common site of neuroblastoma

Adrenal medulla (TOPNOTCH)

169

Presents with a large abdominal mass crossing the midline, hematuria, intestinal obstruction, and hypertension.

Wilm's tumor (TOPNOTCH)

170

A 22 year old male consults an ophthalmologist for sudden blindness on the right. He is found to have lens subluxation. He is unusually tall and lean, with long limbs and fingers. These findings are due to abnormalities in fibrillin 1, which is secreted by (A) megakaryocytes (B) fibroblasts (C) histiocytes (D) fibroclasts

fibroblasts (TOPNOTCH)Robbins Basic Pathology, 8th Ed, p 230

171

A lysosomal storage disease with a mutation in the gene that encodes glucosylceramidase presents with an accumulation of glucosylceramide in mononuclear phagocytic cells in the liver, spleen, and marrow. These pathognomonic cells are (A) enlarged, with a "wrinkled tissue paper" cytoplasm (B) epithelioid, with "slipper-shaped" nuclei (C) multinucleated, with 8 to 20 nuclei (D) studded with reddish brown cytoplasmic granules

enlarged, with a "wrinkled tissue paper" cytoplasm (TOPNOTCH)Robbins Basic Pathology, 8th Ed pp237-238

172

A baby is born with epicanthic folds, flat facial profile, simian crease, and a gap between the first and second toe. Auscultation reveals a holosystolic murmur. The clinical findings are due to an extra chromosome that is most commonly caused by (A) meiotic duplication (B) meiotic nondisjunction (C) fertilization by two spermatozoa (D) translocation

meiotic nondisjunction (TOPNOTCH)Robbins Basic Pathology, 8th Ed p 244

173

A premature female neonate admitted at the PICU develops sepsis, with blood cultures showing growth of Candida sp. She is also found to be persistently hypocalcemic. She dies on her 7th day. On autopsy, she was found to have fungal endocarditis and thymic hypoplasia. She most likely has (A) an extra chromosome 22 (B) a deletion in chromosome 22 (C) a 9:22 chromosomal translocation (D) a duplication in chromosome 22

a deletion in chromosome 22 (TOPNOTCH)Robbins Basic Pathology, 8th Ed pp 245-246

174

A stillborn fetus is found to have polydactyly, an umbilical hernia, and cleft lip and palate. Autopsy showed a ventral septal defect, renal dysplasia, and holoprosencephaly. Karyotyping will likely show (A) Monosomy X (B) Deletion in chromosome 5 (C) Trisomy 13 (D) Trisomy 18

Trisomy 13 (TOPNOTCH)Robbins Basic Pathology, 8th Ed p 245.

175

A 19 year old female consults a gynecologist for primary amenorrhea. Apart from her short stature, there are no other unusual clinical findings. Why must Turner Syndrome be ruled out? (A) mosaicism or partial monosomy may produce a mild form of the syndrome (B) 45,X abnormalities manifest in only half of females by the age of 18 (C) when combined with Fragile X, the typical features such as neck webbing and cubitus valgus are masked (D) supplementation with folate during gestation masks the typical features of neck webbing and cubitus valgus

mosaicism or partial monosomy produces a milder form (TOPNOTCH)Robbins Basic Pathology, 8th Ed pp247-248

176

A stillborn male fetus delivered to a 41 year old G7P7 is found to have flattened facies and clubbed feet. Autopsy showed renal agenesis and pulmonary hypoplasia. What is the main culprit of the findings in the fetus? (A) maternal age (B) multiparity (C) renal agenesis (D) pulmonary hypoplasia

renal agenesis (TOPNOTCH)Robbins Basic Pathology, 8th Ed pp 253-254

177

A G3P3 mother has premature rupture of membranes at 35 weeks age of gestation, and delivers a live baby boy with poor APGAR scores. The obstetrician delivered a placenta with dull-looking membranes, which showed chorioamnionitis on histopathology. Culture of which organism from the placental tissue suggests an transcervical origin of infection? (A) Group B Streptococcus (B) Toxoplasma (C) Plasmodium (D) Rubella

Group B Streptococcus (TOPNOTCH)Robbins Basic Pathology, 8th Ed p. 256

178

A G1P1 preeclamptic mother delivers a live baby boy at 27 weeks age of gestation. The baby develops respiratory distress a few minutes later and is admitted at the PICU. He dies the next day, and is sent for autopsy. Which of the following supports respiratory distress syndrome of the newborn? (A) thickened alveolar septa with lymphocytic infiltrates (B) alveolar spaces filled with neutrophils (C) eosinophilic material lining the alveolar walls (D) hemosiderin laden macrophages in the alveolar spaces

eosinophilic material lining the alveolar walls (TOPNOTCH)Robbins Basic Pathology, 8th Ed pp 257-258

179

A premature male neonate who was delivered at 33 weeks AOG and admitted at the PICU develops abdominal distention, bloody stools, and hypotension. An abdominal radiograph shows gas within the intestinal wall. What is the expected histologic findings of the involved intestine? (A) coagulative necrosis of the mucosa and muscularis (B) arteriovenous fistulas in the submucosa (C) melanosis of the mucosa (D) crypt abscesses and noncaseating granulomas

coagulative necrosis of the mucosa and muscularis (TOPNOTCH)Robbins Basic Pathology, 8th Ed p 259

180

What is the most common autopsy finding in sudden infant death syndrome? (A) patent ductus arteriosus (B) multiple petechiae in the thymus and pleural surfaces (C) bilateral adrenal hemorrhage (D) flattening of gyri in the cerebral cortex

multiple petechiae on the thymus and visceral surfaces (TOPNOTCH)Robbins Basic Pathology, 8th Ed p 260