FaCD Online Syndrome Fact Sheet
Last updated: 25 Jan 2010
Name: Giant Diencephalic Hamartoma and Associated Anomalies
Mode of Inheritance: spor/de novo?
Tumor featuresdiencephalic hamartoma, giant
Non-tumor featuresadrenals, small/hypoplastic anophthalmos cleft lip cleft palate heart, congenital defect microphtalmia nails, small, dysplastic nose, hypoplastic vertebral anomalies
Comment
Guimiot et al[1] reported on five fetuses with giant diencephalic hamartomas. The midline brain and facial malformations were considered to have developed secondary to the encephaloid tumors. Some extracephalic anomalies were observed as well. No germline mutations in the GLI3 gene or genomic rearrangements were detected. The authors suggest that this disorder is different from Pallister-Hall syndrome.
References
[1] Guimiot F, Marcorelles P, Aboura A, Bonyhay G, Patrier S, Menez F, Drouin-Garraud V, Icowick V, Eurin D, Garel C, Moirot H, Verspyck E, Saugier-Veber P, Attie-Bitach T, Picone O, Oury JF, Verloes A, Delezoide AL, Laquerrière A. Giant diencephalic harmartoma and related anomalies: a newly recognized entity distinct from the Pallister-Hall syndrome.Am J Med Genet A. 2009 Jun;149A(6):1108-15.
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