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Question 6601

Topic: 4. Pediatrics

A newborn infant is noted to have a painless, mobile swelling over the middle third of the right collarbone. There is no history of birth trauma. Radiographs show a distinct gap in the mid-clavicle with smooth, rounded bone ends. What is the most appropriate initial management for this condition?

. Immediate open reduction and internal fixation
. Figure-of-eight bracing for 4 weeks
. Observation until skeletal maturity
. Observation with planned surgical excision and bone grafting between 3 to 5 years of age if symptomatic
. Percutaneous pinning

Correct Answer & Explanation

. Observation with planned surgical excision and bone grafting between 3 to 5 years of age if symptomatic


Explanation

Congenital pseudarthrosis of the clavicle is almost exclusively right-sided and presents with smooth, rounded bone ends without callus formation. Management is initially observational; if the patient develops symptoms or significant deformity, excision, bone grafting, and fixation are typically performed around 3 to 5 years of age.

Question 6602

Topic: 4. Pediatrics

A neonate presents with severe bilateral foreshortening of the forearms and clubhands. Clinical examination reveals the absolute absence of the thumbs bilaterally. Echocardiography shows an atrial septal defect. Which of the following is the most likely genetic mutation associated with this presentation?

. TBX5
. RBM8A
. RUNX2
. FANCA
. NIPBL

Correct Answer & Explanation

. TBX5


Explanation

Holt-Oram syndrome is characterized by radial longitudinal deficiency with absent or hypoplastic thumbs and congenital heart defects, primarily atrial septal defects. It is caused by an autosomal dominant mutation in the TBX5 gene.

Question 6603

Topic: 4. Pediatrics

A 35-year-old presents with chronic pain and stiffness in the right lower extremity. Radiographs show dense, undulating cortical hyperostosis resembling "flowing candle wax" along the medial cortex of the femur and tibia. Which somatic mutation is classically linked to this sporadic condition?

. LEMD3
. MAP2K1
. SOX9
. FGFR3
. COMP

Correct Answer & Explanation

. MAP2K1


Explanation

Sporadic melorheostosis is characterized by "flowing candle wax" hyperostosis strictly involving a single limb or sclerotome. Recent evidence shows it is primarily driven by somatic mutations in the MAP2K1 gene.

Question 6604

Topic: 4. Pediatrics

A newborn male is noted to have a hypoplastic right hand with symbrachydactyly. On examination, there is an absent anterior axillary fold on the ipsilateral side. What is the most widely accepted vascular etiology for this congenital anomaly?

. Subclavian artery supply disruption sequence
. Intrauterine amniotic banding
. Failure of apical ectodermal ridge formation
. Failure of the zone of polarizing activity
. Abnormal endochondral ossification

Correct Answer & Explanation

. Subclavian artery supply disruption sequence


Explanation

Poland syndrome presents with unilateral chest wall hypoplasia (absence of the sternocostal head of the pectoralis major) and ipsilateral hand anomalies. It is theorized to result from a disruption or hypoplasia of the embryonic subclavian artery.

Question 6605

Topic: 4. Pediatrics

A 3-year-old girl has congenital absence of the right thumb and a hypoplastic radius. An echocardiogram reveals an atrial septal defect. Which gene mutation is responsible for this autosomal dominant condition?

. RBM8A
. SALL4
. TBX5
. FANCA
. RUNX2

Correct Answer & Explanation

. TBX5


Explanation

Holt-Oram syndrome (cardio-melic syndrome) is caused by mutations in the TBX5 gene. It classically presents with radial ray anomalies and congenital heart defects, most commonly an atrial septal defect (ASD).

Question 6606

Topic: 4. Pediatrics
A 14-year-old female presents with bilateral wrist pain and a "fork-like" deformity. Radiographs show a shortened radius, volar bowing, and dorsal subluxation of the distal ulna. She is noted to have disproportionate mesomelic short stature. What is the genetic basis of this condition?
. Mutation in the FGFR3 gene
. Mutation in the COMP gene
. Haploinsufficiency of the SHOX gene
. Mutation in the COL1A1 gene
. Mutation in the SLC26A2 gene

Correct Answer & Explanation

. Haploinsufficiency of the SHOX gene


Explanation

Léri-Weill dyschondrosteosis is characterized by mesomelic dwarfism and Madelung deformity of the wrists. It is caused by a pseudoautosomal dominant haploinsufficiency of the SHOX gene.

Question 6607

Topic: 4. Pediatrics

A 2-year-old child presents with unilateral tibia vara. Radiographs reveal a sharply demarcated, radiolucent defect in the medial cortex of the proximal metaphysis of the tibia with surrounding sclerosis. What is the recommended initial management for this specific lesion?

. Immediate proximal tibial osteotomy
. Observation, as spontaneous resolution is common
. Curettage and bone grafting
. Application of a guided growth plate
. Hemiepiphysiodesis of the medial proximal tibia

Correct Answer & Explanation

. Observation, as spontaneous resolution is common


Explanation

Focal fibrocartilaginous dysplasia (FFCD) is a benign condition of the proximal medial tibia that mimics early Blount's disease. Most cases resolve spontaneously with observation as the child grows.

Question 6608

Topic: 4. Pediatrics

A 5-year-old girl presents with disproportionate overgrowth of her right index and middle fingers. Histological examination reveals extensive fibrofatty infiltration along the digital nerve sheaths. Which of the following genetic mutations is primarily implicated in this localized dysplasia?

. GNAS
. AKT1
. PIK3CA
. PTEN
. FGFR3

Correct Answer & Explanation

. PIK3CA


Explanation

Macrodystrophia lipomatosa is a rare, localized congenital gigantism typically following a specific nerve territory, most commonly the median nerve. It is associated with somatic mosaic mutations in the PIK3CA gene, leading to excessive fibrofatty overgrowth.

Question 6609

Topic: 4. Pediatrics
A 14-year-old girl presents with bilateral wrist pain and restricted motion. Radiographs show pronounced volar and ulnar curvature of the distal radius with dorsal subluxation of the distal ulna. If this is part of a syndromic condition, which gene is most likely mutated?
. COMP
. SHOX
. COL1A1
. FGFR3
. RUNX2

Correct Answer & Explanation

. SHOX


Explanation

Madelung deformity is caused by premature closure of the volar-ulnar distal radial physis. When bilateral and associated with mesomelic short stature, it is characteristic of Léri-Weill dyschondrosteosis, which is caused by a mutation in the SHOX gene.

Question 6610

Topic: 4. Pediatrics

An infant is diagnosed with unilateral fibular hemimelia. Which of the following associated clinical findings is most likely to be present in the affected limb?

. Anterolateral bowing of the tibia
. Preaxial polydactyly
. Ball-and-socket ankle joint
. Absent medial rays of the foot
. Valgus deformity of the knee due to lateral femoral condyle hypoplasia

Correct Answer & Explanation

. Ball-and-socket ankle joint


Explanation

Fibular hemimelia is the most common congenital long bone deficiency and is typically associated with anteromedial tibial bowing, absent lateral (postaxial) rays, and a ball-and-socket ankle joint. Anterolateral bowing is instead characteristic of congenital pseudarthrosis of the tibia.

Question 6611

Topic: 4. Pediatrics

A 3-year-old child is brought to the clinic due to an inability to supinate the right forearm. Radiographs reveal bony continuity between the proximal radius and ulna. At what stage of embryonic development does the failure of longitudinal segmentation occur to cause this localized anomaly?

. 3rd to 4th week
. 5th to 8th week
. 9th to 12th week
. 13th to 16th week
. 17th to 20th week

Correct Answer & Explanation

. 5th to 8th week


Explanation

Congenital radioulnar synostosis results from a failure of longitudinal segmentation of the common cartilaginous precursor of the radius and ulna. This failure typically occurs during the 5th to 8th week of embryonic gestation.

Question 6612

Topic: 4. Pediatrics
A 2-year-old child presents with an anterolateral bowing of the left tibia that recently fractured. Radiographs show severe narrowing of the medullary canal at the fracture site. A thorough clinical examination should specifically look for which of the following?
. Café-au-lait macules
. Blue sclerae
. Patchy alopecia
. Retinal hemangioblastomas
. Supernumerary teeth

Correct Answer & Explanation

. Café-au-lait macules


Explanation

Congenital pseudarthrosis of the tibia with anterolateral bowing is highly associated with Neurofibromatosis type 1 (NF1). Therefore, the child must be closely examined for signs of NF1, such as café-au-lait spots, axillary freckling, and Lisch nodules.

Question 6613

Topic: 4. Pediatrics

A 1-year-old boy presents with an isolated limb length discrepancy. Radiographs show a shortened right femur with a normally articulated hip and knee, but with significant coxa vara (neck-shaft angle of 85 degrees). There is no pseudoarthrosis. Which of the following is the most appropriate initial management for the coxa vara?

. Observation and reassurance
. Subtrochanteric valgus osteotomy
. Ilizarov lengthening
. Immediate Syme amputation
. Pelvic support osteotomy

Correct Answer & Explanation

. Subtrochanteric valgus osteotomy


Explanation

In congenital short femur with severe coxa vara (neck-shaft angle < 90 degrees or a progressively decreasing angle), a subtrochanteric valgus osteotomy is indicated to correct biomechanics and prevent progression. This realignment must precede any future limb lengthening procedures.

Question 6614

Topic: 4. Pediatrics

A neonate is diagnosed with bilateral radial clubhand and profoundly low platelets. Interestingly, the child's thumbs are present. What is the typical natural history of the thrombocytopenia in this specific syndrome?

. It progressively worsens requiring lifelong transfusions
. It peaks in severity during adulthood leading to spontaneous hemorrhage
. It generally improves and normalizes after the first year of life
. It fluctuates episodically throughout life with viral infections
. It transforms into acute myeloid leukemia by age 5

Correct Answer & Explanation

. It generally improves and normalizes after the first year of life


Explanation

Thrombocytopenia-Absent Radius (TAR) syndrome is unique among radial deficiencies because the thumb is classically present. The associated severe thrombocytopenia is most critical during infancy but generally improves and normalizes after the first 1-2 years of life.

Question 6615

Topic: 4. Pediatrics

A 10-year-old girl with a low posterior hairline and short, webbed neck is diagnosed with Klippel-Feil syndrome. She also has a unilateral undescended scapula. What is the approximate reported incidence of Sprengel deformity in patients with Klippel-Feil syndrome?

. 5-10%
. 25-35%
. 55-65%
. 75-85%
. 95-100%

Correct Answer & Explanation

. 25-35%


Explanation

Sprengel deformity (congenital high scapula) is a frequently associated musculoskeletal anomaly in patients with Klippel-Feil syndrome. It is seen in approximately 25% to 35% of these individuals due to an interrelated arrest in embryologic development.

Question 6616

Topic: 4. Pediatrics

A newborn is evaluated for a sharp posteromedial angulation at the junction of the middle and distal thirds of the left tibia. The foot is held in a severe calcaneovalgus position. What is the expected natural history of the tibial angulation and the limb length discrepancy (LLD)?

. The bowing spontaneously resolves but a significant LLD persists
. The bowing worsens requiring early osteotomy and LLD persists
. Both the bowing and the LLD spontaneously resolve completely
. The bowing resolves but the tibia undergoes a spontaneous fracture
. The bowing worsens leading to joint dislocation and no LLD

Correct Answer & Explanation

. The bowing spontaneously resolves but a significant LLD persists


Explanation

Congenital posteromedial bowing of the tibia is associated with a calcaneovalgus foot posture. While the angular deformity typically remodels and improves spontaneously over the first few years, the limb length discrepancy persists and often requires equalisation surgery at maturity.

Question 6617

Topic: 4. Pediatrics

A 3-month-old infant is brought to the clinic with excessive crying, fever, and a noticeably swollen jaw. Radiographs exhibit pronounced subperiosteal new bone formation exclusively along the mandible. The parents are reassured that symptoms typically resolve spontaneously by age 2. Which collagen gene defect is implicated in this self-limiting condition?

. COL2A1
. COL1A1
. COL9A1
. COL10A1
. COL11A1

Correct Answer & Explanation

. COL1A1


Explanation

Caffey disease (infantile cortical hyperostosis) presents with a triad of soft tissue swelling, hyperirritability, and periosteal new bone formation most commonly affecting the mandible, clavicles, and ulna. The familial form is caused by an autosomal dominant missense mutation in the COL1A1 gene.

Question 6618

Topic: 4. Pediatrics

When optimizing the biomechanical stability of an Ilizarov circular external fixator, which of the following frame modifications will most effectively increase the bending stiffness of the construct?

. Increasing the diameter of the rings
. Decreasing the distance between the two innermost rings across the fracture or osteotomy site
. Using wires intersecting at 45 degrees instead of 90 degrees
. Decreasing the tension on the transfixing wires
. Increasing the distance from the bone to the ring

Correct Answer & Explanation

. Decreasing the distance between the two innermost rings across the fracture or osteotomy site


Explanation

To increase frame stiffness in an Ilizarov construct, one should decrease ring diameter, increase wire tension, cross wires as close to 90 degrees as possible, and decrease the distance between the rings closest to the fracture or osteotomy site.

Question 6619

Topic: 4. Pediatrics

Which of the following modifications most effectively increases the axial stiffness of an Ilizarov circular ring fixator construct?

. Decreasing the tension of the transfixing wires
. Increasing the ring diameter relative to the limb
. Decreasing the ring diameter to minimize the distance to the limb
. Moving the rings further away from the osteotomy site
. Using half-pins exclusively in a uniplanar configuration

Correct Answer & Explanation

. Decreasing the ring diameter to minimize the distance to the limb


Explanation

Frame stability is maximized by using smaller diameter rings (closer to the limb), placing rings closer to the fracture/osteotomy site, increasing wire tension, and using wires that cross at 90-degree angles.

Question 6620

Topic: 4. Pediatrics

A 10-year-old child undergoes guided growth with a medial tension band plate for genu valgum. The implant exerts its corrective effect primarily through which of the following biological principles?

. Wolff's Law
. Hueter-Volkmann principle
. Perren's strain theory
. Mechanostat theory
. Osteoconduction

Correct Answer & Explanation

. Hueter-Volkmann principle


Explanation

The Hueter-Volkmann principle states that increased compression across an active physis slows longitudinal growth, whereas decreased compression accelerates it. A medial tension band plate restricts medial physeal growth while allowing lateral growth to continue, correcting the valgus.