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Although the condition can be lethal, accurate diagnosis, and subsequent management help improve the survival rate. Mutations in the causative gene <jats:italic>SNRPB<\/jats:italic> have been identified, however, the mechanism whereby the skeletal phenotypes affect respiratory function is not well\u2010studied due to the multiple skeletal phenotypes, lack of anatomy\u2010based studies into the condition and rarity of CCMS cases. This review aims to clarify the extent to which the three main skeletal phenotypes in the thorax contribute to respiratory distress in neonates with CCMS. Despite the posterior rib gaps being unique to this condition and visually striking on radiographic images, anatomical consideration, and meta\u2010analyses suggested that they might not be the significant factor in causing respiratory distress in neonates. Rather, the increase in chest wall compliance due to the rib gaps and the decrease in compliance at the costovertebral complex was considered to result in an equilibrium, minimizing the impact of these abnormalities. The absence of floating ribs is likely insignificant as seen in the general population; however, a further absence of ribs or vestigial rib formation is associated with respiratory distress and increased lethality. Based on these, we propose to evaluate the number of absent or vestigial ribs as a priority indicator to develop a personalized treatment plan based on the phenotypes exhibited.<\/jats:p>","DOI":"10.1002\/ca.24054","type":"journal-article","created":{"date-parts":[[2023,6,2]],"date-time":"2023-06-02T15:11:48Z","timestamp":1685718708000},"page":"254-269","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Consideration of the thoracic phenotype of cerebro\u2010costo\u2010mandibular syndrome"],"prefix":"10.1002","volume":"37","author":[{"given":"Holly","family":"Keeling","sequence":"first","affiliation":[{"name":"Faculty of Health Sciences University of Bristol  Bristol UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elle\u2010Jo","family":"Williams","sequence":"additional","affiliation":[{"name":"Faculty of Health Sciences University of Bristol  Bristol UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0587-9141","authenticated-orcid":false,"given":"Nobue","family":"Itasaki","sequence":"additional","affiliation":[{"name":"Faculty of Health Sciences University of Bristol  Bristol UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,6,2]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.2484\/rcr.v6i3.495"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpedsurg.2007.08.065"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.rmed.2017.07.063"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ccm.2018.01.010"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/0021-9290(74)90084-0"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.thorsurg.2009.08.002"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22729"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0075128"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.semtcvs.2008.01.004"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jbiomech.2017.04.003"},{"issue":"1","key":"e_1_2_8_12_1","first-page":"82","article-title":"Cerebro\u2010costo\u2010mandibular syndrome. 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