Giant diencephalic harmartoma and related anomalies: A newly recognized entity distinct from the Pallister-Hall syndrome

An hypothalamic hamartoma is an abnormal mass of mature glio‐neuronal tissue present in the hypothalamic area. It usually measures <2 cm of diameter. Most of the time, this hamartoma occurs in Pallister–Hall syndrome (PHS), due to heterozygous GLI3 mutations. We report on five fetuses with giant...

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Published in:	American journal of medical genetics. Part A Vol. 149A; no. 6; pp. 1108 - 1115
Main Authors:	Guimiot, Fabien, Marcorelles, Pascale, Aboura, Azzedine, Bonyhay, Georges, Patrier, Sophie, Menez, Françoise, Drouin-Garraud, Valérie, Icowick, Valentine, Eurin, Danièle, Garel, Catherine, Moirot, Hélène, Verspyck, Eric, Saugier-Veber, Pascale, Attie-Bitach, Tania, Picone, Olivier, Oury, Jean François, Verloes, Alain, Delezoide, Anne Lise, Laquerrière, Pr. Annie
Format:	Journal Article
Language:	English
Published:	Hoboken Wiley Subscription Services, Inc., A Wiley Company 01-06-2009 Wiley-Liss
Subjects:	Abnormalities, Multiple - genetics Abortion, Induced Adult anoph/microphthalmos Biological and medical sciences Diencephalon - pathology facial asymmetry Facies Female Gestational Age giant diencephalic hamartoma Hamartoma - genetics Humans lip/palate cleft Medical genetics Medical sciences Pallister-Hall Syndrome Pregnancy Syndrome Ultrasonography, Prenatal Pseudotumor giant diencephalic hamartoma Stomatology Congenital cleft Congenital disease Hamartoma Lip Asymmetry Malformation anoph/microphthalmos Anomaly Palate Benign neoplasm lip/palate cleft Complex syndrome Face facial asymmetry Pallister―Hall syndrome Pallister-Hall syndrome
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Summary:	An hypothalamic hamartoma is an abnormal mass of mature glio‐neuronal tissue present in the hypothalamic area. It usually measures <2 cm of diameter. Most of the time, this hamartoma occurs in Pallister–Hall syndrome (PHS), due to heterozygous GLI3 mutations. We report on five fetuses with giant diencephalic hamartoma and other midline brain and facial malformations, without mutation in the GLI3 gene or genomic rearrangements in three of them. The fetuses showed facial asymmetry, unilateral ear and eye anomalies, and facial cleft. Extracephalic malformations consisted of vertebral anomalies and short nails, without polydactyly and cardiac malformation. The diencephalon was replaced by an encephaloid mass protruding into the facial cleft. Normal cerebral structures were not detectable. In one patient, holoprosencephaly of the syntelencephalic type was noted. Arhinencephaly was present in all patients. Histologically, the ill‐defined, multilobulated lesion was made of neuroblastic and neurocytic cell foci, lying in a fibrillar network, elaborating sometimes perivascular pseudorosettes, with a maturation gradient in accordance with the fetal age. Owing to their location, the tumors could be described as diencephalic, rather than hypothalamic hamartomas. The striking asymmetry of the facial anomalies and the diencephalic malformations are not in the spectrum observed with PHS and related syndromes, suggesting a distinct entity involving abnormal morphogenetic developmental fields at around 5 weeks of gestation. © 2009 Wiley‐Liss, Inc.
Bibliography:	istex:806D8E8886010A202E8D38081218DCE9B75637A0 ArticleID:AJMG32859 How to cite this article: 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. 2009. Giant diencephalic harmartoma and related anomalies: A newly recognized entity distinct from the Pallister-Hall syndrome. Am J Med Genet Part A 149A:1108-1115. ark:/67375/WNG-9QS575P2-9 How to cite this article: 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. 2009. Giant diencephalic harmartoma and related anomalies: A newly recognized entity distinct from the Pallister–Hall syndrome. Am J Med Genet Part A 149A:1108–1115. ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	1552-4825 1552-4833
DOI:	10.1002/ajmg.a.32859