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KEY POINTS
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Key Points

  • Distinct skeletal dysplasia characterized by bowing of the long bones of the lower extremity, phenotypic sex reversal, flat face, micrognathia, cleft palate, and renal and cardiac abnormalities.

  • Incidence is 0.05 to 1.6 per 10,000 livebirths.

  • Sonographic findings include acute femoral angulation, a small bell-shaped chest, and marked micrognathia.

  • Differential diagnosis includes osteogenesis imperfecta type II, diastrophic dysplasia, Larsen syndrome, pelvis–shoulder dysplasia, and acampomelic campomelic dysplasia.

  • Fetal karyotype is indicated to screen for chromosome 17 rearrangements, which have a better prognosis and to determine chromosomal gender.

  • 72% of 46, XYfetuses have female genitalia.

  • Delivery at a tertiary center is indicated.

  • 95% of affected individuals die either in the perinatal period or during the first year of life.

  • Long-term survivors have short stature, recurrent apnea and respiratory infections, progressive kyphoscoliosis, and developmental delay.

  • Condition is caused by mutations in SOX9, an essential transcription factor in chondrogenesis.

  • Campomelic dysplasia is inherited as an autosomal dominant. Rare reports of parent-to-child transmission exist.

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CONDITION
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Campomelic dysplasia is a distinct clinical and radiologic entity characterized by symmetric bowing of the long bones of the lower extremities, phenotypic sex reversal in some chromosomally male infants, and associated abnormalities including cleft palate, flat facies, micrognathia, hydrocephalus, and renal abnormalities. The term campomelia comes from the Greek camptos, meaning bent and melos, meaning limbs. Despite the name of the condition, campomelia is not obligatory for a diagnosis of campomelic dysplasia (Ninomiya et al., 1995). MacPherson et al. (1989) described two newborn infants with respiratory distress who demonstrated all of the clinical and radiologic manifestations of campomelic dysplasia except the bent lower extremities. This rare clinical variant is now known as acampomelic campomelia dysplasia (Thong et al., 2000). The various skeletal and extraskeletal manifestations of campomelic dysplasia, including sex reversal, are part of a contiguous gene syndrome that maps to chromosome 17 and is caused by mutations in the transcription factor, SOX9.

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Classic campomelic dysplasia was first described by Maroteaux et al. (1971) and Bianchine et al. (1971) in independent reports. In a review of 43 affected patients, Hall and Spranger (1980) described four major radiologic features in patients with campomelic dysplasia: characteristic lower-limb bowing, absent or hypoplastic scapulas, nonmineralization of the thoracic pedicles, and narrow, vertical iliac bones (Figure 92-1A). They described other useful diagnostic features of the condition that included hypoplastic cervical vertebrae, widely spaced ischial bones, and absent ossification of the distal femoral and proximal tibial epiphyses. Khajavi et al. (1976) described campomelic dysplasia as a distinct entity consisting of short-limbed dwarfism with pretibial skin dimples, a peculiar facies, cleft palate, hypotonia, absent olfactory bulbs, and respiratory distress ending in neonatal death. These authors suggested that the condition could be classified into three varieties: a long-limbed type, a short-limbed type with craniosynostosis, and a short-limbed type with normocephaly. The long-limbed variety is considered to be the most common (...

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