{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T09:40:01Z","timestamp":1756374001228,"version":"3.44.0"},"reference-count":9,"publisher":"BMJ","issue":"2","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2025,1,27]]},"published-print":{"date-parts":[[2025,2]]},"abstract":"<jats:p>Autosomal dominant craniometaphyseal dysplasia (AD-CMD) is a rare condition defined by the occurrence of progressive diffuse hyperostosis of cranial bones and abnormal metaphyseal widening of the tubular bones. <jats:italic>ANKH<\/jats:italic> is known to be the only gene associated with AD-CMD. We present a case of a toddler boy with macrodolichocephaly, asymmetry of the skull, wide bulging forehead, gingival hypertrophy and irregular teeth. Physical examination, X-ray and DNA analysis were performed. All exons and flanking intron regions of <jats:italic>ANKH<\/jats:italic> were amplified by PCR and directly sequenced using the Sanger method. X-ray images showed diffuse osteosclerosis in the area of facial skeleton and skull base. Limbs exhibited club-shaped enlargement of the distal metaphysis of the femur and the proximal metaphysis of the tibia were described. The DNA analysis showed that the patient is a heterozygous carrier of the known pathogenic in-frame deletion (rs121908406; <jats:italic>ANKH<\/jats:italic>:c.1122-4delCTC, p.Ser375del), which has already been described in patients with AD-CMD.<\/jats:p>","DOI":"10.1136\/bcr-2024-260530","type":"journal-article","created":{"date-parts":[[2025,2,6]],"date-time":"2025-02-06T00:45:27Z","timestamp":1738802727000},"page":"e260530","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Highlighting the importance of X-ray diagnostics for targeted molecular genetic analysis in the diagnosis of rare autosomal dominant craniometaphyseal dysplasia"],"prefix":"10.1136","volume":"18","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3482-0878","authenticated-orcid":false,"given":"Natalie","family":"Friedova","sequence":"first","affiliation":[{"name":"Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University, Prague, Czech Republic"},{"name":"Department of Medical Genetics, Thomayer University Hospital, Prague, Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alice","family":"Baxova","sequence":"additional","affiliation":[{"name":"Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University, Prague, Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6811-8676","authenticated-orcid":false,"suffix":"Jr","given":"Antonin","family":"Sipek","sequence":"additional","affiliation":[{"name":"Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University, Prague, Czech Republic"},{"name":"Department of Medical Genetics, Thomayer University Hospital, Prague, Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Frantisek","family":"Liska","sequence":"additional","affiliation":[{"name":"Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University, Prague, Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2025,2,5]]},"reference":[{"key":"2025082802170844000_18.2.e260530.1","unstructured":"Reichenberger E , Dysplasia C . Craniometaphyseal dysplasia, autosomal dominant. In: Adam MP , Mirzaa GM , Pagon RA , et al , eds. Genereviews. Seattle (WA), 1993."},{"key":"2025082802170844000_18.2.e260530.2","doi-asserted-by":"crossref","first-page":"328","DOI":"10.1017\/S0022215100133560","article-title":"Craniometaphyseal and craniodiaphyseal dysplasia, head and neck manifestations and management","volume":"110","author":"Richards","year":"1996","journal-title":"J Laryngol Otol"},{"key":"2025082802170844000_18.2.e260530.3","doi-asserted-by":"crossref","first-page":"260","DOI":"10.1016\/j.radcr.2016.04.006","article-title":"Craniometaphyseal dysplasia in a 14-month old: a case report and review of imaging differential diagnosis","volume":"11","author":"Singh","year":"2016","journal-title":"Radiol Case Rep"},{"key":"2025082802170844000_18.2.e260530.4","doi-asserted-by":"publisher","DOI":"10.1177\/0022034514529304"},{"key":"2025082802170844000_18.2.e260530.5","doi-asserted-by":"crossref","unstructured":"Gorlin RJ , Cohen MM , Hennekam RCM . Syndromes of the Head and Neck. 4th edn. 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