Microdeletion syndrome

Articles

17p13.3 deletion syndrome
11 July 2010
Miller-Dieker syndrome, MDS,
7q terminal deletion syndrome
11 July 2010

Clinical synopsis
esophageal stenosis
growth retardation
microcephaly
coloboma of papilla
ptosis
hearing loss
urinary tract anomalies
partial agenesis of sacrum
hypotonia
neuropsychomotor delay
odontoid hypoplasia
esophageal stenosis (#20601258#)
Anomalies
7q terminal deletion del(7)(q35—>qter) (#20601258#)
References
Esophageal stenosis in a child presenting a de novo 7q terminal deletion. Zen PR, Riegel M, Rosa RF, Pinto LL, Graziadio C, Schwartz IV, Paskulin (...)