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7q terminal deletion syndrome

Sunday 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

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 GA. Eur J Med Genet. 2010 Jun 22. PMID: 20601258

- Murphy SG, Yazbeck S, Russo P. Isolated congenital esophageal stenosis. J Pediatr Surg. 1995 Aug;30(8):1238-41. PMID: 7472993