Author/Authors :
shawky, r.m. Ain Shams University - pediatric department,genetics unit, Egypt , abd-elkhalek, h.s. Ain Shams University - pediatric department,genetics unit, Egypt , abd-elkhalek, h.s. Ain Shams University - pediatric department,genetics unit, Egypt , gad, s. Ain Shams University - pediatric department,genetics unit, Egypt , mohammad, s.a. Ain Shams University - department of diagnostic radiology and medical imaging, Egypt , seifeldin, n.s. Ain Shams University - dermatology and venereology department, Egypt
Abstract :
We report a 4. month old female infant with the typical features of Cornelia-de Lange syndrome. What was striking in our patient was the presence of skeletal anomalies not reported previously. These included arachnodactly of both fingers and toes,flexion of thumbs at metacarpophalengeal joints,bilateral short big toes,angulation of the lower part of the bones of right forearm and both legs with multiple skin folds. Also biochemical and X-ray evidence of rickets was detected mostly due to malnutrition and failure to thrive. The patient died at the age of 5. months with bronchopneumonia and gastroenteritis. © 2012.
Keywords :
Arachnodactly , Bony deformities , Cornelia , de Lange syndrome , Pulmonary artery branch stenosis , Rickets
