{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,16]],"date-time":"2026-03-16T19:36:55Z","timestamp":1773689815781,"version":"3.50.1"},"reference-count":42,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2022,1,3]],"date-time":"2022-01-03T00:00:00Z","timestamp":1641168000000},"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":["Congenital Anomalies"],"published-print":{"date-parts":[[2022,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mutations in the<jats:italic>PORCN<\/jats:italic>gene cause an X\u2010linked dominant condition; focal dermal hypoplasia (FDH), characterized by atrophic skin, pigmented skin lesions in addition to several ocular and skeletal malformations. FDH is rare with around 275 cases reported so far from diverse ethnic groups. Herein, we provide a report of two new patients with FDH from Egypt. In addition to the typical clinical manifestations of the disease, infrequently reported clinical findings in the form of broad metaphysis, bilateral short broad femurs, and dermal sinus over the sacrum were seen in Patient 1 and partial fusion of labia majora, ventral hernia, and bladder extrophy were present in Patient 2. Two heterozygous protein\u2010truncating<jats:italic>PORCN<\/jats:italic>mutations were identified in our patients, a known nonsense c.370C&gt;T p.(Arg124Ter) and a novel frameshift c.375delG p.(Ala126HisfsTer3). Segregation analyses confirmed that the two mutations were \u201cde novo\u201d and not inherited from any of the parents. Our study expands the clinical and mutational spectrum of focal dermal hypoplasia and emphasizes the importance of investigating the different body systems and organs for the early management of patients.<\/jats:p>","DOI":"10.1111\/cga.12457","type":"journal-article","created":{"date-parts":[[2021,12,28]],"date-time":"2021-12-28T07:54:10Z","timestamp":1640678050000},"page":"68-77","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Two new patients with focal dermal hypoplasia: A novel<scp><i>PORCN<\/i><\/scp>variant and insights on the diagnostic considerations"],"prefix":"10.1111","volume":"62","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1498-6619","authenticated-orcid":false,"given":"Rasha Moheb","family":"Elhossini","sequence":"first","affiliation":[{"name":"Clinical Genetics Department Human Genetics and Genome Research Institute, National Research Centre Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohamed S.","family":"Abdel\u2010Hamid","sequence":"additional","affiliation":[{"name":"Medical Molecular Genetics Department Human Genetics and Genome Research Institute, National Research Centre Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Engy","family":"Ashaat","sequence":"additional","affiliation":[{"name":"Clinical Genetics Department Human Genetics and Genome Research Institute, National Research Centre Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ghada A.","family":"Otaify","sequence":"additional","affiliation":[{"name":"Clinical Genetics Department Human Genetics and Genome Research Institute, National Research Centre Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Heba","family":"Dawoud","sequence":"additional","affiliation":[{"name":"Genetics Unit, Department of Pediatrics Tanta University Tanta Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Khalid","family":"Elshimy","sequence":"additional","affiliation":[{"name":"Department of Surgery Tanta University Tanta Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mona","family":"El Ruby","sequence":"additional","affiliation":[{"name":"Clinical Genetics Department Human Genetics and Genome Research Institute, National Research Centre Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mona","family":"Aglan","sequence":"additional","affiliation":[{"name":"Clinical Genetics Department Human Genetics and Genome Research Institute, National Research Centre Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,1,3]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.5070\/D373V5D63S"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.1962.01590120006002"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.1970.04000010003001"},{"key":"e_1_2_7_5_1","first-page":"A50","article-title":"Provisional deletion mapping of the focal dermal hypoplasia (FDH) gene to Xp22.31. 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