Miller-Dieker syndrome, MDS,
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Miller-Dieker syndrome, MDS,
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 (...)
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