Campomelic dysplasia

Campomelic dysplasia is a very rare disorder characterised by a variable association of skeletal abnormalities (bowed and fragile long bones, pelvis and chest abnormalities, eleven rib pairs instead of the usual twelve), and extraskeletal abnormalities (facial dysmorphology, cleft palate, sexual ambiguity or sex reversal in two thirds of the affected boys, and brain, heart and kidney malformations).

Thoracic kyphoscoliosis



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PMID (PMCID)
20199862
 FEMALE Infant, Newborn
Campomelic dysplasia: a rare cause of congenital spinal deformity.
Dahdaleh NS, Albert GW, Hasan DM.
J Clin Neurosci. 2010;17(5):664-6.
We present a neonate who was diagnosed with campomelic dysplasia, resulting in severe cervical and thoracic kyphoscoliosis and respiratory compromise.
12151884
 FEMALE Infant, Newborn
Orthopaedic manifestations of campomelic dysplasia.
Khoshhal K, Letts RM.
Clin Orthop Relat Res. 2002;(401):65-74.
There are several types of campomelic dysplasia; however, it is characterized by the presence of anteriorly bowed tibias with cutaneous dimpling, anterolaterally bowed femurs, thoracic kyphoscoliosis, hypoplastic scapulas, and absence or delayed ossification of thoracic pedicles.