Clinical features of CHARGE Syndrome and 13q22 deletion
Purpose: Describe the findings of a patient who fulfils the diagnostic criteria for CHARGE syndrome and presents a 13q22 deletion at the cytogenetic study.
CHARGE syndrome is a genetic disorder characterized by ocular coloboma, heart defects, atresia or stenosis of the choanae, retardation of growth and/or development, genitourinary anomalies, and ears anomalies with or without deafness. Mutations and deletions at the CDH7 gene, located on 8q12.1, were recently described in patients with clinical features of this syndrome. Ethiopathogenia of this disorder is still under research.
We present a male patient, with prenatal history of intrauterine growth restriction, congenital cardiopathy, and Dandy-Walker malformation. At birth the physical exam highlighted a coarse face, ocular hypertelorism, fullness of the eyelids, a broad nose with an important asymmetry of the nares, dysplastic, simple, squared shape and low set ears, micrognathia, pterigion colli with redundant nuchal skin, bilateral clinodactyly of the fifth finger, and male genitalia with a small penis and right cryptorchidism. The cardiac exam showed a holosystolic murmur grade 2/6 at the left lower sternal border.
Otorhinolaryngology evaluation confirmed stenosis of the right choanae and grade II-III laryngomalacia.
Pseudocoarctation of the aorta and persistent ductus arteriosus were diagnosed by cardiac US and the Dandy-Walker malformation was confirmed by cerebral US.
Cytogenetic exam showed a 13q22 deletion in all the cells studied.
The patient died at the second day of life, before the ophthalmologic evaluation.
Conclusion: Because of his heart defect, stenosis of a choanae, prenatal growth retardation, genital anomalies and dysplastic ears, the patient described fulfils the diagnostic criteria for CHARGE syndrome. The result of his cytogenetic study, a 13q22 deletion, could be helpful to elucidate a possible genetic heterogeneity of this disorder.