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Case 92 - Campomelic dysplasia

from Section 9 - Musculoskeletal imaging

Published online by Cambridge University Press:  05 June 2014

Ralph Lachman
Affiliation:
Stanford University
Heike E. Daldrup-Link
Affiliation:
Lucile Packard Children's Hospital, Stanford University
Beverley Newman
Affiliation:
Lucile Packard Children's Hospital, Stanford University
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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 Imaging
Variants and Other Difficult Diagnoses
, pp. 374 - 376
Publisher: Cambridge University Press
Print publication year: 2014

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References

Alanay, Y, Krakow, D, Rimoin, DL, et al. Angulated femurs and the skeletal dysplasias: experience of the International Skeletal Dysplasia Registry (1988–2006). Am J Med Genet A 2007;143A(11):1159–68.CrossRefGoogle Scholar
Lachman, RS. Taybi and Lachman’s Radiology of Syndromes, Metabolic Disorders and Skeletal Dysplasias, 5th edition. St Louis: Mosby Inc, 2007; 720–1, 722–4, 881–3, 920–1, 972–3, 1018–24, 1089–90.Google Scholar

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