Severe Pallister-Hall syndrome with persistent urogenital sinus, renal agenesis, imperforate anus, bilateral hypothalamic hamartomas, and severe skeletal anomalies

Am J Med Genet A. 2013 Oct;161A(10):2666-9. doi: 10.1002/ajmg.a.36117. Epub 2013 Aug 15.

Authors

Elizabeth McPherson¹, Christopher Cold

Affiliation

¹ Department of Medical Genetics Services, Marshfield Clinic, Marshfield, Wisconsin.

PMID: 23950073
DOI: 10.1002/ajmg.a.36117

No abstract available

Publication types

Case Reports

MeSH terms

Autopsy
Fatal Outcome
Female
Humans
Infant, Newborn
Pallister-Hall Syndrome / diagnosis*
Phenotype*
Severity of Illness Index