Menu

Question 3461

Topic: 7. Hand and Wrist

Review the hand radiograph of the patient with Ellis-van Creveld syndrome shown below. In addition to the shortening of the digits, what other characteristic skeletal anomaly is evident in the metacarpals?



. Agenesis of the first metacarpal
. Metacarpal pseudoarthrosis
. Partial fusion of the metacarpal bases
. Bifid metacarpal heads
. Severe osteopenia of the metacarpal shafts

Correct Answer & Explanation

. Partial fusion of the metacarpal bases


Explanation

Correct Answer: Partial fusion of the metacarpal basesThe radiograph demonstrates shortening of the digits and partial fusion of the metacarpal bases. This is a recognized skeletal manifestation in the hands of patients with Ellis-van Creveld syndrome, often seen in conjunction with postaxial polydactyly.

Question 3462

Topic: 7. Hand and Wrist

A 5-year-old child presents with the hand deformities shown in the clinical and radiographic images below. The patient previously underwent surgical excision of extra digits. Based on the underlying syndrome, what type of polydactyly was most likely resected?




. Preaxial polydactyly
. Central polydactyly
. Postaxial polydactyly
. Mirror hand deformity
. Macrodactyly

Correct Answer & Explanation

. Postaxial polydactyly


Explanation

Correct Answer: CThe images demonstrate dystrophic nails and shortening of the digits, characteristic of Chondroectodermal Dysplasia (Ellis-van Creveld syndrome). A hallmark feature of this syndrome is bilateral postaxial polydactyly, which is often surgically resected early in life.

Question 3463

Topic: 7. Hand and Wrist

A neonate is diagnosed with chondroectodermal dysplasia. The orthopedic surgeon notes short limbs and postaxial polydactyly. Which of the following cardiac anomalies is most classically associated with this syndrome and requires urgent pediatric cardiology evaluation?

. Tetralogy of Fallot
. Atrial septal defect
. Ventricular septal defect
. Patent ductus arteriosus
. Coarctation of the aorta

Correct Answer & Explanation

. Ventricular septal defect


Explanation

Correct Answer: CCongenital heart disease is a major component of Ellis-van Creveld syndrome, most classically presenting as a ventricular septal defect (VSD) or a common atrium.

Question 3464

Topic: 7. Hand and Wrist

A 4-year-old boy with Ellis-van Creveld syndrome is being evaluated. Radiographs of his hands are taken to assess his skeletal development. Which of the following radiographic findings is characteristic of the metacarpals in this syndrome?

. Proximal pointing of the metacarpals
. Partial fusion of the metacarpal bases
. Bullet-shaped metacarpals
. Avascular necrosis of the metacarpal heads
. Madelung deformity

Correct Answer & Explanation

. Partial fusion of the metacarpal bases


Explanation

Correct Answer: BA characteristic radiographic finding in the hands of patients with Ellis-van Creveld syndrome is the partial fusion of the metacarpal bases, alongside shortening of the digits and postaxial polydactyly.

Question 3465

Topic: 7. Hand and Wrist

A 5-year-old child presents with the hand deformities and radiographic findings shown below. The patient has a history of a congenital heart defect and short stature. Based on the radiograph provided, what specific skeletal anomaly is present at the proximal aspect of the hand?


. Agenesis of the scaphoid
. Partial fusion of the metacarpal bases
. Carpal coalition of the lunate and triquetrum
. Madelung deformity
. Delta phalanx of the thumb

Correct Answer & Explanation

. Partial fusion of the metacarpal bases


Explanation

Correct Answer: Partial fusion of the metacarpal basesThe radiograph demonstrates shortening of the digits and partial fusion of the metacarpal bases, which is a characteristic radiographic finding in the hands of patients with Ellis-van Creveld syndrome (chondroectodermal dysplasia). The clinical image also shows dystrophic nails and the post-operative state of postaxial polydactyly resection.

Question 3466

Topic: 7. Hand and Wrist

A multidisciplinary team is managing a 3-year-old child diagnosed with chondroectodermal dysplasia. The orthopedic surgeon notes short limbs and postaxial polydactyly. Which of the following cardiac anomalies is most classically associated with this syndrome and requires screening?

. Tetralogy of Fallot
. Atrial septal defect
. Ventricular septal defect
. Patent ductus arteriosus
. Coarctation of the aorta

Correct Answer & Explanation

. Ventricular septal defect


Explanation

Correct Answer: Ventricular septal defectEllis-van Creveld syndrome is classically characterized by short stature, disproportionate dwarfism, short limbs, polydactyly, and congenital heart disease. The most common congenital heart defect associated with this syndrome is a ventricular septal defect (VSD).

Question 3467

Topic: 7. Hand and Wrist

A newborn is diagnosed with chondroectodermal dysplasia. The orthopedic surgeon is consulted for the management of the patient's hand deformities. Based on the classic presentation of this syndrome, what type of polydactyly is most likely present?

. Preaxial polydactyly of the hands only
. Central polydactyly of the hands and feet
. Postaxial polydactyly
. Mirror hand deformity (ulnar dimelia)
. Macrodactyly

Correct Answer & Explanation

. Postaxial polydactyly


Explanation

Correct Answer: Postaxial polydactylyEllis-van Creveld syndrome is classically associated with bilateral postaxial polydactyly (extra digits on the ulnar/fibular side of the hands/feet), along with dystrophic nails and shortening of the tubular bones.

Question 3468

Topic: 7. Hand and Wrist

A 5-year-old child presents with disproportionate short stature and a history of congenital heart disease. The clinical and radiographic appearance of the hands is shown below. Based on the diagnosis, which of the following specific radiographic features is classically noted in the metacarpals of patients with this condition?




. Avascular necrosis of the metacarpal heads
. Partial fusion of the metacarpal bases
. Madelung deformity
. Metacarpal lengthening
. Complete absence of the first metacarpal

Correct Answer & Explanation

. Partial fusion of the metacarpal bases


Explanation

Correct Answer: Partial fusion of the metacarpal basesThe image demonstrates the hands of a patient with Ellis-van Creveld syndrome (chondroectodermal dysplasia) after resection of bilateral postaxial polydactyly. A classic radiographic finding in the hands of these patients is the partial fusion of the metacarpal bases, along with shortening of the digits.

Question 3469

Topic: 7. Hand and Wrist

A neonate is evaluated for short limbs and postaxial polydactyly. The pediatrician suspects Ellis-van Creveld syndrome. Which of the following oral findings is highly characteristic and plays an important role in the clinical diagnosis of this syndrome?

. Cleft palate with a bifid uvula
. Macroglossia with prominent papillae
. Fusion of the upper lip to the gingival margin
. Mandibular prognathism
. Absence of the hard palate

Correct Answer & Explanation

. Fusion of the upper lip to the gingival margin


Explanation

Correct Answer: Fusion of the upper lip to the gingival marginVariable oral findings play an important role in the diagnosis of Ellis-van Creveld syndrome. These include fusion of the upper lip to the gingival margin, multiple frenula, abnormally shaped and microdontic teeth, congenital missing teeth, malocclusion, neonatal teeth, and notching of the lower alveolar process.

Question 3470

Topic: 7. Hand and Wrist

A patient with Ellis-van Creveld syndrome presents to the orthopedic clinic for evaluation of their hands. They have a history of postaxial polydactyly resection. Upon physical examination of the hands, which of the following findings is most likely to be observed as part of the ectodermal dysplasia?

. Clubbing of the fingertips
. Dystrophic nails
. Koilonychia (spoon nails) due to iron deficiency
. Pitting of the nails associated with psoriasis
. Complete absence of the distal phalanges

Correct Answer & Explanation

. Dystrophic nails


Explanation

Correct Answer: Dystrophic nailsAs a chondroectodermal dysplasia, Ellis-van Creveld syndrome affects ectodermal tissues. Patients characteristically present with dystrophic nails, in addition to hair anomalies and dental defects.

Question 3471

Topic: 7. Hand and Wrist

A patient with disproportionate dwarfism and a history of congenital heart disease presents with the hand radiograph shown below. What specific skeletal anomaly is classically highlighted in the metacarpal region in this condition?




. Agenesis of the first metacarpal
. Partial fusion of the metacarpal bases
. Madelung deformity
. Delta phalanx of the thumb

Correct Answer & Explanation

. Partial fusion of the metacarpal bases


Explanation

Correct Answer: Partial fusion of the metacarpal basesThe radiograph demonstrates shortening of the digits and partial fusion of the metacarpal bases, which is a characteristic radiographic finding in the hands of patients with Ellis-van Creveld's syndrome.

Question 3472

Topic: 7. Hand and Wrist

A neonate is diagnosed with Chondroectodermal Dysplasia. Which of the following cardiac anomalies is most classically associated with this condition?

. Tetralogy of Fallot
. Ventricular septal defect
. Patent ductus arteriosus
. Coarctation of the aorta

Correct Answer & Explanation

. Ventricular septal defect


Explanation

Correct Answer: Ventricular septal defectEllis-van Creveld's syndrome is characterized by short stature, disproportionate dwarfism, short limbs, polydactyly, and congenital heart disease, specifically due to a ventricular septal defect (VSD).

Question 3473

Topic: 7. Hand and Wrist

A 5-year-old child with short stature and a history of polydactyly is being evaluated. The hands are shown below. Which of the following ectodermal manifestations is also commonly associated with this syndrome?




. Cafe-au-lait spots
. Plantar keratoderma
. Axillary freckling
. Hypopigmented macules

Correct Answer & Explanation

. Plantar keratoderma


Explanation

Correct Answer: Plantar keratodermaThe image shows dystrophic nails and hands post-resection of polydactyly, typical of Chondroectodermal Dysplasia. Associated ectodermal and systemic anomalies include ichthyoids, plantar keratoderma, anomalies of hair, and urinary tract anomalies.

Question 3474

Topic: 7. Hand and Wrist

The clinical photograph below shows the hands of a patient after surgical intervention for a congenital anomaly. Based on the typical presentation of Ellis-van Creveld syndrome, what specific type of anomaly was most likely resected?




. Preaxial polydactyly
. Postaxial polydactyly
. Central syndactyly
. Macrodactyly

Correct Answer & Explanation

. Postaxial polydactyly


Explanation

Correct Answer: Postaxial polydactylyThe image shows the hands after the resection of bilateral postaxial polydactyly. Postaxial polydactyly (extra digits on the ulnar/fibular side) is a hallmark feature of Ellis-van Creveld's syndrome.

Question 3475

Topic: 7. Hand and Wrist

Radiographs of the wrist in a 12-year-old child with chondroectodermal dysplasia will most likely reveal which of the following characteristic carpal anomalies?

. Scapholunate dissociation
. Capitate-hamate coalition
. Avascular necrosis of the lunate
. Madelung deformity
. Absent triquetrum

Correct Answer & Explanation

. Capitate-hamate coalition


Explanation

A classic and highly specific radiographic finding in the wrists of patients with Ellis-van Creveld syndrome is the fusion (coalition) of the capitate and hamate bones. This is often accompanied by extra carpal bones due to polydactyly.

Question 3476

Topic: 7. Hand and Wrist

A newborn presents with postaxial polydactyly and dental anomalies. Which syndrome is allelic to Ellis-van Creveld syndrome (caused by mutations in the same EVC genes), but is inherited in an autosomal dominant fashion and lacks the severe dwarfism and thoracic hypoplasia?

. Jeune syndrome
. Weyers acrofacial dysostosis
. Achondroplasia
. McKusick-Kaufman syndrome
. Cleidocranial dysplasia

Correct Answer & Explanation

. Weyers acrofacial dysostosis


Explanation

Weyers acrofacial dysostosis is an autosomal dominant condition caused by heterozygous mutations in EVC1 or EVC2. It shares features of postaxial polydactyly and dental anomalies with EVC but is generally a milder phenotype without severe short stature.

Question 3477

Topic: 7. Hand and Wrist

Look at the provided image of a patient with Ellis-van Creveld syndrome.

What is the typical distribution of the hand polydactyly seen in this condition?

. Preaxial (radial) involving the thumb
. Central involving the third digit
. Postaxial (ulnar) typically well-formed
. Postaxial with an associated syndactyly between the index and middle fingers
. Mirror hand deformity (ulnar dimelia)

Correct Answer & Explanation

. Postaxial (ulnar) typically well-formed


Explanation

Polydactyly in EVC syndrome is consistently postaxial (on the ulnar side of the hand) and is present in virtually 100% of patients. The extra digit is often well-formed and may articulate with the 5th metacarpal or a 6th metacarpal.

Question 3478

Topic: 7. Hand and Wrist

Which of the following conditions shares the feature of postaxial polydactyly with Ellis-van Creveld syndrome but is differentiated by the presence of hydrometrocolpos and the absence of a generalized skeletal dysplasia?

. Jeune syndrome
. McKusick-Kaufman syndrome
. Bardet-Biedl syndrome
. Holt-Oram syndrome
. VATER association

Correct Answer & Explanation

. McKusick-Kaufman syndrome


Explanation

McKusick-Kaufman syndrome is a differential diagnosis for EVC, presenting with postaxial polydactyly and congenital heart disease. However, it is distinguished by the presence of hydrometrocolpos and the lack of severe short-limb dwarfism.

Question 3479

Topic: 7. Hand and Wrist

In a patient evaluated for suspected Ellis-van Creveld syndrome, which of the following hand deformities is most consistently observed and serves as a classic diagnostic criterion?

. Preaxial polydactyly
. Central polydactyly
. Postaxial polydactyly
. Macrodactyly
. Syndactyly of the 1st and 2nd digits

Correct Answer & Explanation

. Postaxial polydactyly


Explanation

Postaxial polydactyly (supernumerary digits on the ulnar aspect of the hand) is a universal finding in Ellis-van Creveld syndrome, typically presenting bilaterally. Preaxial polydactyly is generally not associated with this condition.

Question 3480

Topic: 7. Hand and Wrist

A 12-year-old with chondroectodermal dysplasia undergoes bilateral wrist radiographs to evaluate for pain and stiffness. Which of the following carpal anomalies is most characteristic of this condition?

. Scapholunate dissociation
. Avascular necrosis of the lunate
. Fusion of the capitate and hamate
. Madelung deformity
. Absent trapezium

Correct Answer & Explanation

. Fusion of the capitate and hamate


Explanation

Capitate-hamate fusion (coalition) is a highly characteristic carpal anomaly found in patients with Ellis-van Creveld syndrome. It is often bilateral and related to the broader defect in chondrogenesis.