Book contents
- Frontmatter
- Contents
- List of contributors
- Preface
- Acknowledgment
- Section 1 Head and neck
- Section 2 Thoracic imaging
- Section 3 Cardiac imaging
- Section 4 Vascular and interventional
- Section 5 Gastrointestinal imaging
- Section 6 Urinary imaging
- Section 7 Endocrine - reproductive imaging
- Section 8 Fetal imaging
- Section 9 Musculoskeletal imaging
- Case 82 Clubfoot
- Case 83 Developmental dysplasia of the hip
- Case 84 Legg–Calve–Perthes disease
- Case 85 Slipped capital femoral epiphysis
- Case 86 Langerhans cell histiocytosis: MRI/PET for diagnosis and treatment monitoring
- Case 87 Congenital syphilis
- Case 88 Medial malleolus avulsion fracture
- Case 89 Triplane fracture
- Case 90 Fibrous dysplasia
- Case 91 Chest wall sarcoma
- Case 92 Campomelic dysplasia
- Case 93 Type II collagenopathy (hypochondrogenesis)
- Case 94 Morel-Lavallée lesions
- Case 95 Infantile myofibromatosis
- Case 96 Osteochondritis dissecans of the capitellum
- Index
- References
Case 92 - Campomelic dysplasia
from Section 9 - Musculoskeletal imaging
Published online by Cambridge University Press: 05 June 2014
- Frontmatter
- Contents
- List of contributors
- Preface
- Acknowledgment
- Section 1 Head and neck
- Section 2 Thoracic imaging
- Section 3 Cardiac imaging
- Section 4 Vascular and interventional
- Section 5 Gastrointestinal imaging
- Section 6 Urinary imaging
- Section 7 Endocrine - reproductive imaging
- Section 8 Fetal imaging
- Section 9 Musculoskeletal imaging
- Case 82 Clubfoot
- Case 83 Developmental dysplasia of the hip
- Case 84 Legg–Calve–Perthes disease
- Case 85 Slipped capital femoral epiphysis
- Case 86 Langerhans cell histiocytosis: MRI/PET for diagnosis and treatment monitoring
- Case 87 Congenital syphilis
- Case 88 Medial malleolus avulsion fracture
- Case 89 Triplane fracture
- Case 90 Fibrous dysplasia
- Case 91 Chest wall sarcoma
- Case 92 Campomelic dysplasia
- Case 93 Type II collagenopathy (hypochondrogenesis)
- Case 94 Morel-Lavallée lesions
- Case 95 Infantile myofibromatosis
- Case 96 Osteochondritis dissecans of the capitellum
- Index
- References
Summary
Imaging description
A full-term newborn with polyhydramnios on third trimester ultrasound appeared dysmorphic with a cleft palate. On the AP chest radiograph the infant is noted to be intubated. The chest is slightly small with normal rib length (Fig. 92.1). The scapular bodies are absent. The midthoracic pedicles are unossified. The iliac wings are tall and narrow.
The femurs are disproportionately long compared to the shortened tibias. The skull is dolichocephalic and facial hypoplasia is present. The cervical spine has an S-shaped configuration with vertebral body hypoplasia (Fig. 92.1). These features are typical of acampomelic campomelic dysplasia.
Importance
Fetal and newborn presenting skeletal dysplasias are quite common and diverse. Campomelic dysplasia often presents in utero with short extremities (including femoral length) and bent femurs. It therefore is considered as one of the neonatal bent bone dysplasias. It usually represents a SOX9 gene mutation. Some clinical signs and symptoms are important yet none are diagnostic.
- Type
- Chapter
- Information
- Pearls and Pitfalls in Pediatric ImagingVariants and Other Difficult Diagnoses, pp. 374 - 376Publisher: Cambridge University PressPrint publication year: 2014