4. Pediatrics MCQs

A 10-month-old infant with achondroplasia presents with poor head control, hypotonia, and witnessed episodes of central sleep apnea. Which of the following is the most appropriate next step in management?

A 14-month-old infant with achondroplasia presents with a flexible thoracolumbar kyphosis of 40 degrees. Neurological examination is normal, and the child has just started pulling to stand. What is the most appropriate initial management for this spinal deformity?

An infant presents with disproportionate short-trunk dwarfism, prominent joints, and a cleft palate. Spinal radiographs reveal characteristic coronal clefts in the vertebral bodies. Which of the following genetic mutations is most likely responsible for this skeletal dysplasia?

A 6-month-old infant with achondroplasia is noted to have central sleep apnea, hyperreflexia, and delayed motor milestones. MRI confirms severe cervicomedullary compression at the skull base. What is the most appropriate surgical intervention?

A 10-month-old infant with achondroplasia is noted to have a prominent thoracolumbar kyphosis. Neurological examination is normal. Radiographs demonstrate a 35-degree thoracolumbar kyphosis with mild anterior wedging of L1. What is the most appropriate initial management?

A newborn is evaluated for skeletal disproportion. Radiographs reveal dumbbell-shaped femora, widened metaphyses, and coronal clefts in the vertebral bodies. Which of the following genetic mutations is most likely responsible?

An infant presents with a long, narrow trunk and disproportionately short limbs. Over the next few years, the phenotype appears to 'reverse,' with the trunk becoming extremely short due to severe progressive kyphoscoliosis. A mutation in the TRPV4 gene is identified. What is the diagnosis?

A 14-year-old male with a known genetic disorder presents with a sharp, short-segmented angular scoliosis. Radiographs demonstrate vertebral body scalloping, 'penciling' of the apical ribs, and enlarged intervertebral foramina. Which genetic mutation is most likely responsible?

A term infant presents with a short trunk, protuberant abdomen, and multiple vertebral anomalies including hemivertebrae and block vertebrae leading to a 'crab-like' appearance of the rib cage on radiographs. The infant soon develops severe respiratory insufficiency. What is the most likely diagnosis?

Achondroplasia and Hypochondroplasia both result from mutations in the FGFR3 gene, but their clinical severities differ. In the spine, which of the following features is classically observed in Achondroplasia but is typically absent or much less pronounced in Hypochondroplasia?

An 8-month-old infant with achondroplasia presents with a progressive thoracolumbar kyphosis. The parents are concerned as the angulation has worsened since the child began sitting. Neurological examination is normal. Which of the following is the most appropriate initial management?

A 14-month-old male with achondroplasia presents with central sleep apnea, failure to thrive, and hyperreflexia of all four extremities. What is the most appropriate next step in evaluation?

A 10-year-old boy presents with a short webbed neck, low posterior hairline, and restricted cervical range of motion. Radiographs demonstrate congenital fusion of C3-C4 and C5-C6. Which of the following systemic screening tests is mandatory?

A newborn exhibits a remarkably short trunk, a protuberant abdomen, and a 'crab-like' appearance of the ribs on chest radiographs due to extensive rib fusions and multiple hemivertebrae. A mutation in which of the following genes is most likely responsible?

A 9-month-old infant with achondroplasia presents for a routine orthopedic evaluation. Clinical examination reveals a flexible 35-degree thoracolumbar kyphosis. The neurologic examination is unremarkable, and the infant is meeting developmental milestones. What is the most appropriate initial management for this spinal deformity?

A 3-year-old girl is evaluated for delayed milestones, coarse facial features, and hepatosplenomegaly. Lateral spine radiographs reveal platyspondyly with anterior inferior beaking of the lumbar vertebrae. Which of the following best describes the molecular pathogenesis of her underlying condition?

An infant is born with a normal-length trunk and short extremities. Over the next few years, the phenotype dramatically evolves due to a severe progressive kyphoscoliosis, resulting in a short trunk with relatively long-appearing limbs. A distinctive tail-like appendage is noted over the sacrum. What is the most likely diagnosis?

A 9-year-old boy presents with severe leg pain, muscle weakness, and a waddling gait. Radiographs show bilateral symmetric cortical thickening of the femoral and tibial diaphyses, sparing the epiphyses.

What is the underlying genetic mutation associated with this disorder?

A 10-year-old girl complains of bilateral knee and hip pain after activity. Radiographs reveal delayed, irregular ossification of the capital femoral epiphyses and a double-layered appearance of the patellae on a lateral knee radiograph. Intelligence and facial features are normal. What gene mutation is most commonly responsible?

A newborn is noted to have rhizomelic shortening of the limbs, frontal bossing, and midface hypoplasia. Radiographs show decreasing interpedicular distances from the upper to the lower lumbar spine. The mutation responsible for this condition primarily affects which specific zone of the physis?