{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,14]],"date-time":"2026-05-14T05:25:30Z","timestamp":1778736330340,"version":"3.51.4"},"reference-count":12,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2017,3,23]],"date-time":"2017-03-23T00:00:00Z","timestamp":1490227200000},"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":[[2017,5]]},"abstract":"<jats:sec><jats:label\/><jats:p>Sensenbrenner syndrome (cranioectodermal dysplasia, CED) is a very rare autosomal recessive ciliopathy. Cranioectodermal dysplasia is characterized by craniofacial, skeletal, and ectodermal abnormalities. About 50 patients have been described to date. Sensenbrenner syndrome belongs to a group of ciliary chondrodysplasias and is a genetically heterogeneous disorder. Mutations in five genes: <jats:italic>IFT122, WDR35, IFT43, WDR19<\/jats:italic>, and <jats:italic>IFT52<\/jats:italic> have been associated with CED. All known genes encode proteins that are part of the intraflagellar transport complex, which plays an important role in the assembly and maintenance of cilia. Here, we report a family with two children affected by Sensenbrenner syndrome, a 9\u2010year\u2010old girl and her older sister who died in infancy due to respiratory, liver, and renal insufficiency. Dysmorphic features included short stature with rhizomelic shortening of limbs, short fingers, preaxial polydactyly of left hand, narrow chest, craniosynostosis, dolichocephaly, high anterior hairline, epicanthal folds and telecanthus, depressed nasal bridge, low\u2010set ears, and additional ectodermal abnormalities. The patient presented with chronic tubulointerstitial renal disease. She had abnormal echogenicity on renal ultrasound, reduced glomerular filtration, albuminuria and tubular proteinuria, hypocalciuria and hypocitraturia, accompanied by pre\u2010hypertensive state. This pattern of renal abnormality was regarded as nephronophthisis. Psychomotor development was apparently normal. Molecular analysis in one of the affected individuals identified compound heterozygosity for a nonsense (c.1922T&gt;G, p.(Leu641*)) and missense (c.2522A&gt;T, p.(Asp841Val)) variants in <jats:italic>WDR35<\/jats:italic>. We present a detailed clinical descriptions of two female siblings showing an intrafamilial phenotypic variability of the disease, and illustrating the potential lethality of CED.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38163","type":"journal-article","created":{"date-parts":[[2017,3,24]],"date-time":"2017-03-24T06:42:58Z","timestamp":1490337778000},"page":"1364-1368","source":"Crossref","is-referenced-by-count":15,"title":["Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic <i>WDR35<\/i> mutations"],"prefix":"10.1002","volume":"173","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4662-9336","authenticated-orcid":false,"given":"Joanna","family":"Walczak\u2010Sztulpa","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Poznan University of Medical Sciences Poznan Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Wawrocka","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Poznan University of Medical Sciences Poznan Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Agata","family":"Sobierajewicz","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Poznan University of Medical Sciences Poznan Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lukasz","family":"Kuszel","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Poznan University of Medical Sciences Poznan Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jan","family":"Zawadzki","sequence":"additional","affiliation":[{"name":"Department of Nephrology Kidney Transplantation and Hypertension The Children's Memorial Health Institute Warsaw Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ryszard","family":"Grenda","sequence":"additional","affiliation":[{"name":"Department of Nephrology Kidney Transplantation and Hypertension The Children's Memorial Health Institute Warsaw Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Swiader\u2010Lesniak","sequence":"additional","affiliation":[{"name":"Department of Anthropology The Children's Memorial Health Institute Warsaw Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beata","family":"Kocyla\u2010Karczmarewicz","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology The Children's Memorial Health Institute Warsaw Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Wnuk","sequence":"additional","affiliation":[{"name":"Department of Diagnostic Imaging The Children's Memorial Health Institute Warsaw Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Latos\u2010Bielenska","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Poznan University of Medical Sciences Poznan Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Krystyna H.","family":"Chrzanowska","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics The Children's Memorial Health Institute Warsaw Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,3,23]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2011.088864"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-012-2259-9"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35608"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.10.001"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.08.004"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12762"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2012.01880.x"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37133"},{"key":"e_1_2_8_10_1","first-page":"46","article-title":"Clinical genetics and pathobiology of ciliary chondrodysplasias","volume":"3","author":"Schmidts M.","year":"2014","journal-title":"Journal of Pediatric Genetics"},{"key":"e_1_2_8_11_1","first-page":"372","article-title":"New syndrome of skeletal, dental and hair anomalies","volume":"11","author":"Sensenbrenner J. 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