{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:06:10Z","timestamp":1761717970590},"reference-count":49,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":4314,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1993,8,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Fryns syndrome is a lethal autosomal recessive multiple congenital anomaly syndrome characteristic \u201ccoarse\u201d facies, cleft palate, diaphragmatic hernia, and distal digital hypoplasia. The appearance of the face and digits is very similar to that observed in Pallister\u2010Killian syndrome (mosaic isochromosome 12p), although the incidence of cleft palate, diaphragmatic hernia, and neonatal death is much lower in the latter condition.<\/jats:p><jats:p>We report on an infant with many manifestations of Fryns syndrome (\u201ccourse\u201d face, cleft palate, cloudy corneae, diaphragmatic hernia, distal digital hypoplasia, and neonatal death) who was found to be mosaic for i(12p). Her diagnosis was changed to Pallister\u2010Killian syndrome and the family was counselled accordingly.<\/jats:p><jats:p>The clinical overlap between Fryns and Pallister\u2010Killian syndromes is discussed. Because the chromosome abnormality in Pallister\u2010Killian syndrome is often limited to fibroblasts and may be selectively eliminated both in vivo and in vitro, some Pallister\u2010Killian patients may be misdiagnosed with Fryns syndrome and given an erroneously high recurrence risk. Newborn infants with the Fryns or Pallister\u2010Killian phenotypes should have chromosome studies involving multiple tissues so that the correct diagnosis can be made. This will contribute to the understanding of both disorders and facilitate appropriate genetic counselling. \u00a9 1993 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320470219","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T16:33:25Z","timestamp":1118507605000},"page":"241-245","source":"Crossref","is-referenced-by-count":38,"title":["Pallister\u2010Killian and Fryns syndromes: Nosology"],"prefix":"10.1002","volume":"47","author":[{"given":"Elizabeth W.","family":"McPherson","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Deborah M.","family":"Ketterer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Donna J.","family":"Salsburey","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1989.tb02927.x"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320320120"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320420525"},{"key":"e_1_2_1_5_1","doi-asserted-by":"crossref","first-page":"499","DOI":"10.1542\/peds.85.4.499","article-title":"Fryns syndrome: An autosomal recessive disorder associated with craniofacial anomalies, diaphragmatic hernia, and distal digital hypoplasia","volume":"85","author":"Cunniff C","year":"1990","journal-title":"Pediatrics"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.15.5.399"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00295591"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00442089"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1985.tb00416.x"},{"key":"e_1_2_1_10_1","first-page":"57","article-title":"Diaphragmatic defects, craniofacial dysmorphism, cleft palate and distal limb deformities. 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A case report of Teschler\u2010Nicola\/Killian Syndrome","volume":"1","author":"Lubinsky M","year":"1983","journal-title":"J Clin Dysmorph"},{"key":"e_1_2_1_22_1","first-page":"5","article-title":"\u201cKillian syndrome\u201d and mosaic tetrasomy 12P","volume":"2","author":"Lubinsky M","year":"1984","journal-title":"J Clin Dysmorph"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320140309"},{"key":"e_1_2_1_24_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1985.tb00419.x"},{"key":"e_1_2_1_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320310413"},{"key":"e_1_2_1_26_1","first-page":"18","article-title":"Syndrome identification case report 104. 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