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Giant diencephalic harmartoma and related anomalies: A newly recognized entity distinct from the Pallister-Hall syndrome
American journal of medical genetics. Part A, 2009-06, Vol.149A (6), p.1108-1115
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
2009
Volltextzugriff (PDF)
Details
Autor(en) / Beteiligte
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
Titel
Giant diencephalic harmartoma and related anomalies: A newly recognized entity distinct from the Pallister-Hall syndrome
Ist Teil von
American journal of medical genetics. Part A, 2009-06, Vol.149A (6), p.1108-1115
Ort / Verlag
Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Erscheinungsjahr
2009
Quelle
Wiley-Blackwell Journals
Beschreibungen/Notizen
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.
Sprache
Englisch
Identifikatoren
ISSN: 1552-4825
eISSN: 1552-4833
DOI: 10.1002/ajmg.a.32859
Titel-ID: cdi_proquest_miscellaneous_67327133
Format
–
Schlagworte
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
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