{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,23]],"date-time":"2025-02-23T22:40:26Z","timestamp":1740350426491,"version":"3.37.3"},"reference-count":4,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2024,10,31]],"date-time":"2024-10-31T00:00:00Z","timestamp":1730332800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Med Imag Rad Onc"],"published-print":{"date-parts":[[2025,2]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>PHACE syndrome is a challenging but important prenatal diagnosis due to its protean clinical consequences. The \u2018tilted telephone receiver\u2019 sign (TTRS), consisting of asymmetric cerebellar volume reduction and marked counterclockwise, Dandy\u2013Walker\u2010like upward vermis rotation on prenatal MRI and ultrasound has high specificity for PHACE. Recently, a case report of the prenatal imaging findings in an infant with PHACE described more mild upward vermis rotation and cerebellar clefting. It recommended consideration of expansion of the currently accepted phenotype to improve prenatal detection of the condition. We describe a case with imaging features essentially indistinguishable from the recently published case of PHACE with mild upward vermis rotation, asymmetric cerebellar hemispheric volume loss and a cerebellar hemispheric cleft. Our patient did not have PHACE postnatally at 1\u2009year of follow up. Neurodevelopmental testing in infancy demonstrated mildly atypical development. Fetuses with asymmetric cerebellar hemispheric volume loss, a cleft in the smaller hemisphere and only mild upward vermis rotation, consistent with the proposed \u2018expanded PHACE phenotype\u2019 do not always have PHACE. Erroneously adverse prenatal prognostic counselling may result from such prenatal phenotypic expansion.<\/jats:p>","DOI":"10.1111\/1754-9485.13804","type":"journal-article","created":{"date-parts":[[2024,11,1]],"date-time":"2024-11-01T05:39:10Z","timestamp":1730439550000},"page":"85-87","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["<scp>PHACE<\/scp>ing a challenging diagnosis: Should we expand the phenotype?"],"prefix":"10.1111","volume":"69","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9668-6809","authenticated-orcid":false,"given":"Stacy K","family":"Goergen","sequence":"first","affiliation":[{"name":"Monash Imaging  Melbourne Victoria Australia"},{"name":"Department of Radiology and Radiological Sciences Monash University  Melbourne Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"LuFee","family":"Wong","sequence":"additional","affiliation":[{"name":"Fetal Diagnostic Unit Monash Health  Melbourne Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael C","family":"Fahey","sequence":"additional","affiliation":[{"name":"Paediatric Neurology\/Neurogenetics Units Monash Health  Melbourne Victoria Australia"},{"name":"Department of Paediatrics Monash University  Melbourne Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,10,31]]},"reference":[{"key":"e_1_2_1_4_2_1","doi-asserted-by":"publisher","DOI":"10.1590\/abd1806-4841.20187693"},{"key":"e_1_2_1_4_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2018.08.006"},{"key":"e_1_2_1_4_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.27526"},{"key":"e_1_2_1_4_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.15772"}],"container-title":["Journal of Medical Imaging and Radiation Oncology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/1754-9485.13804","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,2,23]],"date-time":"2025-02-23T22:02:06Z","timestamp":1740348126000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/1754-9485.13804"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,10,31]]},"references-count":4,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2025,2]]}},"alternative-id":["10.1111\/1754-9485.13804"],"URL":"https:\/\/doi.org\/10.1111\/1754-9485.13804","archive":["Portico"],"relation":{},"ISSN":["1754-9477","1754-9485"],"issn-type":[{"type":"print","value":"1754-9477"},{"type":"electronic","value":"1754-9485"}],"subject":[],"published":{"date-parts":[[2024,10,31]]},"assertion":[{"value":"2024-07-07","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-10-21","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-10-31","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}