{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,25]],"date-time":"2026-04-25T08:12:35Z","timestamp":1777104755182,"version":"3.51.4"},"reference-count":22,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2016,1,29]],"date-time":"2016-01-29T00:00:00Z","timestamp":1454025600000},"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":[[2016,5]]},"abstract":"<jats:sec><jats:label\/><jats:p>The femoral facial syndrome (FFS) is a rare congenital anomaly syndrome characterized by bilateral femoral hypoplasia and facial dysmorphism. The etiology of FFS is currently unknown but maternal\/gestational diabetes has been proposed as a strong risk factor for syndromic femoral hypoplasia. In affected children born to non\u2010diabetic mothers, a genetic contribution to FFS is suspected; however, no chromosomal anomalies or gene mutations have been identified so far. Here, we report on a girl with FFS and a de novo complex chromosome rearrangement of terminal chromosome 2q37.2. Radiographs of the pelvis and lower limbs showed bilateral shortening and bowing of the femur and radiographs of hands and feet revealed a brachydactyly type E (BDE). Using high resolution array\u2010CGH, qPCR, and FISH, we detected a \u223c1.9\u2009Mb duplication in the chromosomal region 2q37.2 and a \u223c5.4\u2009Mb deletion on chromosome 2q37.3 that were absent in the parents. The duplication contains six genes and the deletion encompasses 68 genes; the latter has previously been shown to cause BDE (through haploinsufficiency for <jats:italic>HDAC4<\/jats:italic>) but not femoral hypoplasia. Therefore, we propose that the duplication 2q37.2 could be causative for the femur phenotype. To the best of our knowledge, our report is the first to propose a genetic cause in a case of FFS. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37560","type":"journal-article","created":{"date-parts":[[2016,1,29]],"date-time":"2016-01-29T12:52:53Z","timestamp":1454071973000},"page":"1202-1207","source":"Crossref","is-referenced-by-count":13,"title":["Femoral facial syndrome associated with a de novo complex chromosome 2q37 rearrangement"],"prefix":"10.1002","volume":"170","author":[{"given":"Malte","family":"Spielmann","sequence":"first","affiliation":[{"name":"Institute for Medical and Human Genetics Charit\u00e9\u2010Universit\u00e4tsmedizin Berlin Berlin Germany"},{"name":"Max Planck Institute for Molecular Genetics Berlin Germany"},{"name":"Berlin\u2010Brandenburg Center for Regenerative Therapies (BCRT) Berlin Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sylvie","family":"Marx","sequence":"additional","affiliation":[{"name":"Department of Pediatric Orthopedics Sch\u00f6n Klinik Vogtareuth Vogtareuth Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gotthold","family":"Barbi","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University of Ulm Ulm Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ricarda","family":"Fl\u00f6ttmann","sequence":"additional","affiliation":[{"name":"Institute for Medical and Human Genetics Charit\u00e9\u2010Universit\u00e4tsmedizin Berlin Berlin Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hildegard","family":"Kehrer\u2010Sawatzki","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University of Ulm Ulm Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rainer","family":"K\u00f6nig","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University of Frankfurt Frankfurt\/Main Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Denise","family":"Horn","sequence":"additional","affiliation":[{"name":"Institute for Medical and Human Genetics Charit\u00e9\u2010Universit\u00e4tsmedizin Berlin Berlin Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stefan","family":"Mundlos","sequence":"additional","affiliation":[{"name":"Institute for Medical and Human Genetics Charit\u00e9\u2010Universit\u00e4tsmedizin Berlin Berlin Germany"},{"name":"Max Planck Institute for Molecular Genetics Berlin Germany"},{"name":"Berlin\u2010Brandenburg Center for Regenerative Therapies (BCRT) Berlin 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