{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T16:16:40Z","timestamp":1790007400151,"version":"4.0.1"},"reference-count":18,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2016,7,13]],"date-time":"2016-07-13T00:00:00Z","timestamp":1468368000000},"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":[[2016,10]]},"abstract":"<jats:sec><jats:label\/><jats:p>Mandibuloacral dysplasia with type B lipodystrophy is a rare autosomal recessive disease characterized by atrophic skin, lipodystrophy, and skeletal features. It is caused by mutations in <jats:italic>ZMPSTE24<\/jats:italic>, a gene encoding a zinc metalloproteinase involved in the post\u2010translational modification of lamin. Nine distinct pathogenic variants have been identified in 11 patients from nine unrelated families with this disorder. We report a 12\u2010year\u2010old boy with mandibuloacral dysplasia with type B lipodystrophy and a novel homozygous c.1196A&gt;G; p.(Tyr399Cys) mutation in <jats:italic>ZMPSTE24<\/jats:italic>. The patient had typical dermatological and skeletal features of mandibuloacral dysplasia with type B lipodystrophy, sparse hair, short stature, mild microcephaly, facial dysmorphism, and a striking failure of ossification of the interparietal region of the occipital bone, up to the position where transverse occipital suture can be observed. Newly recognized signs for mandibuloacral dysplasia with type B lipodystrophy were gaze palsy and ptosis. Delayed closure of cranial sutures and Wormian bones have been described in three patients, but an ossification failure strictly limited to the occipital bone, as seen in the present patient, appears to be unique for mandibuloacral dysplasia with type B lipodystrophy. This observation illustrates that <jats:italic>ZMPSTE24<\/jats:italic> could play a specific role in membranous ossification in the interparietal part of the squama (Inca bone) but not in the intracartilaginous ossification of the supraoccipital. This failure of ossification in the squama appears to be a useful feature for the radiological diagnosis of mandibuloacral dysplasia with type B lipodystrophy. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37825","type":"journal-article","created":{"date-parts":[[2016,7,13]],"date-time":"2016-07-13T16:34:32Z","timestamp":1468427672000},"page":"2750-2755","source":"Crossref","is-referenced-by-count":16,"title":["Failure of ossification of the occipital bone in mandibuloacral dysplasia type B"],"prefix":"10.1002","volume":"170","author":[{"given":"Damien","family":"Haye","sequence":"first","affiliation":[{"name":"Department of Genetics APHP\u2010Robert Debr\u00e9 University Hospital and Paris VII\u2010Denis Diderot Medical School Paris Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hend","family":"Dridi","sequence":"additional","affiliation":[{"name":"Department of Genetics APHP\u2010Robert Debr\u00e9 University Hospital and Paris VII\u2010Denis Diderot Medical School Paris Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan","family":"Levy","sequence":"additional","affiliation":[{"name":"Department of Genetics APHP\u2010Robert Debr\u00e9 University Hospital and Paris VII\u2010Denis Diderot Medical School Paris Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V\u00e9ronique","family":"Lambert","sequence":"additional","affiliation":[{"name":"Regional Hospital Saint Laurent du Maroni French Guiana France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maurice","family":"Lambert","sequence":"additional","affiliation":[{"name":"Medical Doctor Saint Laurent du Maroni French Guiana France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohamed","family":"Agha","sequence":"additional","affiliation":[{"name":"Medical Doctor Mana French Guiana 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