Open AccessRole of Imaging and Cytogenetics in Evaluation of DiGeorge Syndrome - A Rare Entity in Clinical Practice
Author(s) -
Rajoo Ramachandran,
Sellappan Rajamanickam Babu,
Subramanian Ilanchezhian,
Prabhu Radhan Radhakrishnan
Publication year - 2015
Publication title -
journal of clinical imaging science
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.279
H-Index - 18
eISSN - 2156-7514
pISSN - 2156-5597
DOI - 10.4103/2156-7514.150445
Subject(s) - digeorge syndrome , craniofacial , medicine , craniofacial abnormality , facial dysmorphism , pathology , genetics , biology , psychiatry , gene , phenotype
DiGeorge syndrome is a congenital genetic disorder that affects the endocrine system, mainly the thymus and parathyroid glands. The syndrome produces different symptoms, which vary in severity and character between patients. It manifests with craniofacial dysmorphism and defects in the heart, parathyroid, and thymus. Patients can present with a palatal deformity and nasal speech. This rare entity is caused mainly due to deletion of chromosome 22q11.2. Radiographic evaluation of DiGeorge syndrome is necessary to define aberrant anatomy, evaluate central nervous system, craniofacial abnormalities, musculoskeletal system, and cardiothoracic contents. It also helps in planning surgical procedures and surgical reconstructions. We report a case of DiGeorge syndrome in a 4-month-old neonate and discuss the clinical, imaging, and cytogenetic findings that helped in the diagnosis of this rare entity