Reassessment of holoprosencephaly-diencephalic hamartoblastoma (HDH) association

Marco Castori, Sofia Douzgou, Evelina Silvestri, Férechté Encha-Razavi, Bruno Dallapiccola

Research output: Contribution to journalArticle

7 Citations (Scopus)

Abstract

We report on a 23-week fetus with a hypothalamic hamartoma, lobar holoprosencephaly, right anophthalmia, and facial asymmetry, features which are consistent with the boloprosencephaly-diencephalic bamartoblastoma (HDH) association. In an attempt to better delineate HDH, we reviewed 19 published patients with similar features. The HDH clinical spectrum ranges from classic holoprosencephaly with micro/anophthalmia, multiple additional findings in non-contiguous structures and early lethality, to isolated microforms of holoprosencephaly. Associated cephalic features mainly include cortical/neuronal migration defects (39%), meningeal anomalies (28%), brainstem/ posterior fossa malformations (22%), dysmorphic ears (41%), facial asymmetry (35%), and hypoplastic mandible (29%). Fifty-three percent of patients have additional extracephalic malformations, for example, vertebral/rib segmentation defects (50%), hypo/aplastic lungs (38%). congenital heart defect (29%), and urinary anomalies (29%). HDH shows etiological heterogeneity, that is, teratogenic exposure, chromosome imbalances, autosomal recessive as well as dominant "de novo" mutations. Several features could directly result from a disruptive sequence caused by an early hamartoma which alters the development of forebrain, hindbrain, meninges, and 1st-2nd branchial arches, although the pleiotropic action of genetic/environmental factors cannot be excluded. HDH does not emerge as a distinct syndrome, but other hypotheses, including separate conditions within a common pathway and the developmental field defect theory, are discussed.

Original languageEnglish
Pages (from-to)277-284
Number of pages8
JournalAmerican Journal of Medical Genetics, Part A
Volume143
Issue number3
DOIs
Publication statusPublished - Feb 1 2007

Fingerprint

Holoprosencephaly
Anophthalmos
Facial Asymmetry
Microfilming
Branchial Region
Meninges
Rhombencephalon
Hamartoma
Congenital Heart Defects
Ribs
Prosencephalon
Mandible
Brain Stem
Ear
Fetus
Chromosomes
Head
Lung
Mutation

Keywords

  • Blastogenesis
  • Developmental field defect
  • Etiological heterogeneity
  • Holoprosencephaly
  • Hypothalamic hamartoma
  • Sequence

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Reassessment of holoprosencephaly-diencephalic hamartoblastoma (HDH) association. / Castori, Marco; Douzgou, Sofia; Silvestri, Evelina; Encha-Razavi, Férechté; Dallapiccola, Bruno.

In: American Journal of Medical Genetics, Part A, Vol. 143, No. 3, 01.02.2007, p. 277-284.

Research output: Contribution to journalArticle

Castori, Marco ; Douzgou, Sofia ; Silvestri, Evelina ; Encha-Razavi, Férechté ; Dallapiccola, Bruno. / Reassessment of holoprosencephaly-diencephalic hamartoblastoma (HDH) association. In: American Journal of Medical Genetics, Part A. 2007 ; Vol. 143, No. 3. pp. 277-284.
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