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- Title
Campomelic dysplasia with 10 pairs of ribs in a preterm neonate: A case report.
- Abstract
Campomelic dysplasia (CD) is a rare form of skeletal dysplasia (incidence 1:200,000 births) which is associated with characteristic phenotypes including bowing of the limbs, a narrow thoracic cage, 11 pairs of ribs, hypoplastic scapulae, macrocephaly, flattened supraorbital ridges and nasal bridge, cleft palate, and micrognathia. In addition to the skeletal abnormalities, hydrocephalus, hydronephrosis, and congenital heart disease have been reported. We describe a preterm neonate who presented with respiratory failure and clinical features of CD. Our case had only 10 pairs of ribs, and to the best of our knowledge this is the first case report of CD with 10 pairs of ribs.
- Subjects
CHEST abnormalities; RIB abnormalities; CAMPOMELIC dysplasia; CLEFT palate; CONGENITAL heart disease; HYDROCEPHALUS; HYDRONEPHROSIS; PREMATURE infants; MICROGNATHIA; SCAPULA; PHENOTYPES; ABNORMALITIES in the anatomical extremities; CRANIOFACIAL abnormalities; GENETICS; DIAGNOSIS
- Publication
Indian Journal of Radiology & Imaging, 2018, Vol 28, Issue 4, p456
- ISSN
0971-3026
- Publication type
Article
- DOI
10.4103/ijri.IJRI_173_18