Open AccessCornelia-de Lange syndrome in an Egyptian infant with unusual bone deformities
Author(s) -
Rabah M. Shawky,
Heba Salah Abd-Elkhalek,
Shimaa Gad,
Shaimaa Abdelsattar Mohammad,
Neven S. Seifeldin
Publication year - 2013
Publication title -
the egyptian journal of medical human genetics /the egyptian journal of medical human genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.253
H-Index - 17
eISSN - 2090-2441
pISSN - 1110-8630
DOI - 10.1016/j.ejmhg.2012.04.004
Subject(s) - failure to thrive , medicine , rickets , cornelia de lange syndrome , bronchopneumonia , malnutrition , forearm , pediatrics , anatomy , vitamin d and neurology
We report a 4month 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 5months with bronchopneumonia and gastroenteritis