Disproportionate short stature with multisystem involvement - Ellis-van Creveld syndrome
JCPSP-Journal of the College of Physicians and Surgeons Pakistan. 2009; 19 (12): 803-806
in English
| IMEMR
| ID: emr-102644
ABSTRACT
Ellis-van Creveld syndrome is a rare form of mesenchymal - ectodermal dysplasia. It is an autosomal recessive disorder characterized by disproportionate short stature, postaxial polydactyly, ectodermal dysplasia and congenital heart defect. This case report presents two cases with classical clinical findings along with some unusual features including rhizomelic limb shortening, global developmental delay and bilateral lens subluxation not reported previously
Search on Google
Index:
IMEMR (Eastern Mediterranean)
Main subject:
Ectodermal Dysplasia
/
Lens Subluxation
/
Polydactyly
/
Heart Defects, Congenital
Type of study:
Case report
Limits:
Humans
/
Male
Language:
English
Journal:
J. Coll. Physicians Surg. Pak.
Year:
2009
Similar
MEDLINE
...
LILACS
LIS