{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T13:29:34Z","timestamp":1760707774197},"reference-count":44,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2007,1,17]],"date-time":"2007-01-17T00:00:00Z","timestamp":1168992000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2007,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on a 23\u2010week fetus with a hypothalamic hamartoma, lobar holoprosencephaly, right anophthalmia, and facial asymmetry, features which are consistent with the<jats:italic>h<\/jats:italic>oloprosencephaly\u2013<jats:italic>d<\/jats:italic>iencephalic<jats:italic>h<\/jats:italic>amartoblastoma (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\u2010contiguous 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\u2010three percent of patients have additional extra\u2010cephalic 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 \u201cde novo\u201d 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\u20132nd 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. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31591","type":"journal-article","created":{"date-parts":[[2007,1,17]],"date-time":"2007-01-17T19:53:20Z","timestamp":1169063600000},"page":"277-284","source":"Crossref","is-referenced-by-count":8,"title":["Reassessment of holoprosencephaly\u2013diencephalic hamartoblastoma (HDH) association"],"prefix":"10.1002","volume":"143A","author":[{"given":"Marco","family":"Castori","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sofia","family":"Douzgou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Evelina","family":"Silvestri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F\u00e9recht\u00e9","family":"Encha\u2010Razavi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bruno","family":"Dallapiccola","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2007,1,17]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1177\/088307380201700215"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0387-7604(98)00015-1"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320260418"},{"key":"e_1_2_6_5_1","first-page":"762","article-title":"Precocious puberty with tumor of the diencephalon. 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