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).

Hypoplastic scapulae

Underdeveloped scapula.


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PMID (PMCID)
30662210
 OTHER
Campomelic dysplasia with 10 pairs of ribs in a preterm neonate: A case report.
Basani L, Aepala R, Macha N.
Indian J Radiol Imaging. 2018;28(4):456-459.
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.
26078652
 OTHER
A case of campomelic dysplasia in whom a new mutation was found in the SOX9 gene.
Karaer K, Yuksel Z, Yalnbas E, Scherer G.
Turk Pediatri Ars. 2014;49(2):154-6.
Campomelic dysplasia (CD, OMIM #114290) is a rare autosomal dominant disease characterized with bending and shortness in the long bones of the lower extremities, typical facial features, hypoplastic scapula, costa defect, narrow thorax and pes equinovarus.
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.