{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,13]],"date-time":"2025-05-13T14:33:15Z","timestamp":1747146795048,"version":"3.40.5"},"reference-count":15,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2023,5,24]],"date-time":"2023-05-24T00:00:00Z","timestamp":1684886400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Birth Defects Research"],"published-print":{"date-parts":[[2023,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Circumferential skin creases is a rare and heterogeneous disorder characterized by multiple and redundant skin folds, which can present as an isolated feature or in association with other phenotypic anomalies. Here, we report the case of a newborn who immediately captured our attention because of his phenotype.<\/jats:p><\/jats:sec><jats:sec><jats:title>Case<\/jats:title><jats:p>A male Caucasian infant was born at 39\u2009weeks and 4\u2009days of gestational age with an instrumental delivery, after a pregnancy characterized by threat of preterm birth at 32\u2009weeks. Fetal ultrasounds were reported to be normal. The patient was the first child of non\u2010consanguineous parents. Anthropometry at birth: weight 3.590\u2009kg (0.57 SDS); length 53\u2009cm (1.73 SDS); cranial circumference 35.5\u2009cm (0.83 SDS). Clinical examination soon after birth revealed multiple, asymmetric and deep skin folds involving forearms, legs and lower eyelids (right\u2009&gt;\u2009left). These folds seemed not to cause any physical discomfort. In addition, hypertrichosis, micrognathia, low\u2010set ears and a thin, down\u2010turned border of upper lip were observed. Cardio\u2010respiratory, abdominal and neurological examination was unremarkable. There was no family history of similar appearance or other physical abnormalities. Given the clinical picture, an array\u2010CGH was performed, which was normal. A genetic counseling was requested and Circumferential Skin Creases disorder was diagnosed based on the typical cutaneous involvement and, given the absence of other clinical signs, it was supposed a benign evolution, with skin folds tending to disappear over time. In addition, the baby's DNA was requested for a targeted genetic analysis, which resulted negative.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>This clinical case underlines the need of performing a detailed neonatal physical examination in order to realize a timely diagnostic approach. Our patient presented with multiple skin folds, facial dysmorphism but normal systemic and neurological examination. Anyways, since Circumferential Skin Creases may be associated with later neurological symptoms, a regular reevaluation is recommended.<\/jats:p><\/jats:sec>","DOI":"10.1002\/bdr2.2187","type":"journal-article","created":{"date-parts":[[2023,5,24]],"date-time":"2023-05-24T09:30:08Z","timestamp":1684920608000},"page":"1169-1173","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Neonatal diagnosis of circumferential skin creases"],"prefix":"10.1002","volume":"115","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7314-3879","authenticated-orcid":false,"given":"Chiara","family":"Cauzzo","sequence":"first","affiliation":[{"name":"Department of Pediatrics University of Chieti  Chieti Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0555-2173","authenticated-orcid":false,"given":"Valentina","family":"Chiavaroli","sequence":"additional","affiliation":[{"name":"Neonatal Intensive Care Unit Pescara Public Hospital  Pescara Italy"},{"name":"Liggins Institute, The University of Auckland  Auckland New Zealand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3927-6277","authenticated-orcid":false,"given":"Chiara","family":"Palka Bayard de Volo","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit SS Annunziata Hospital  Chieti Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Altea","family":"Petrucci","sequence":"additional","affiliation":[{"name":"Neonatal Intensive Care Unit Pescara Public Hospital  Pescara Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Teresa","family":"Topazio","sequence":"additional","affiliation":[{"name":"Neonatal Intensive Care Unit Pescara Public Hospital  Pescara Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giulia","family":"Di Donato","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Chieti  Chieti Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1345-0919","authenticated-orcid":false,"given":"Riccardo","family":"Fiorentino","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Chieti  Chieti Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesco","family":"Chiarelli","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Chieti  Chieti Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susanna","family":"Di Valerio","sequence":"additional","affiliation":[{"name":"Neonatal Intensive Care Unit Pescara Public Hospital  Pescara Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,5,24]]},"reference":[{"issue":"6","key":"e_1_2_10_2_1","first-page":"222","article-title":"A rare case of Michelin tire baby syndrome with achondroplasia in a newborn baby","volume":"24","author":"Al\u2010Tayar A. A. K.","year":"2020","journal-title":"Current Pediatric Research"},{"doi-asserted-by":"publisher","key":"e_1_2_10_3_1","DOI":"10.1002\/ajmg.1320450318"},{"doi-asserted-by":"publisher","key":"e_1_2_10_4_1","DOI":"10.1111\/cge.13232"},{"issue":"9","key":"e_1_2_10_5_1","first-page":"777","article-title":"Michelin tire baby syndrome\u2014A case report and literature review","volume":"60","author":"Farooqi G. 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