{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T11:25:39Z","timestamp":1789644339033,"version":"4.0.0"},"reference-count":23,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2024,8,16]],"date-time":"2024-08-16T00:00:00Z","timestamp":1723766400000},"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":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2024,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Aplasia Cutis Congenita with Ectrodactyly Skeletal Syndrome (ACCES, OMIM #619959) is an extremely rare multiple congenital anomalies syndrome caused by haploinsufficiency of the\n                    <jats:italic>UBA2<\/jats:italic>\n                    gene. This syndrome presents with growth retardation, dysmorphic facial features, neurodevelopmental delay, skeletal problems including ectrodactyly, developmental dysplasia of the hip (DDH) and scoliosis, skin findings such as aplasia cutis, and some internal organ abnormalities. Our 13\u2010year\u2010old female patient and her 38\u2010year\u2010old father had a skeletal dysplasia phenotype with disproportionate short stature, bilateral DDH, mild epiphyseal involvement, scoliosis, and increased lumbar lordosis. Both were neurodevelopmentally normal and had mild dysmorphic facial features and mild ectodermal findings. The dominant inheritance pattern in the pedigree suggested a pre\u2010diagnosis of spondyloepiphyseal dysplasia tarda. The exome sequencing analysis of the patient has identified a novel heterozygous variant, NM_005499.2:c.460\u20102A &gt;G, in the\n                    <jats:italic>UBA2<\/jats:italic>\n                    gene, and the father was found heterozygous either. The isolated spondyloepiphyseal involvement of our patients was an unusual presentation compared to patients with ACCES syndrome previously reported in the literature. Considering the highly variable expressiveness of ACCES syndrome and the co\u2010occurrence of familial hip dysplasia and vertebral problems, we suggest that this syndrome can also be classified under \u201cSpondyloepi(meta)physial dysplasia (SE(M)D)\u201d in the nosology of genetic skeletal disorders.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.63852","type":"journal-article","created":{"date-parts":[[2024,8,16]],"date-time":"2024-08-16T04:58:51Z","timestamp":1723784331000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Atypical presentation of\n                    <scp>ACCES<\/scp>\n                    syndrome resembling dominant Spondyloepiphyseal dysplasia tarda"],"prefix":"10.1002","volume":"194","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3886-3808","authenticated-orcid":false,"given":"Abdullah","family":"Sezer","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Ankara Etlik City Hospital  Ankara T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3659-1354","authenticated-orcid":false,"given":"Zeynep","family":"\u00d6zdemir","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Ankara Etlik City Hospital  Ankara T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erdem","family":"\u00d6zkan","sequence":"additional","affiliation":[{"name":"Department of Radiology Ankara Etlik City Hospital  Ankara T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Semra","family":"\u00c7etinkaya","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology Dr. Sami Ulus Obstetrics and Gynecology, Children's Health and Disease Training and Research Hospital  Ankara 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