{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T00:32:42Z","timestamp":1760747562997,"version":"build-2065373602"},"reference-count":13,"publisher":"BMJ","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1994,12]]},"abstract":"<jats:p>We report two fetuses with Fryns syndrome including the typical facial appearance and distal limb and lung hypoplasia, but no diaphragmatic hernias. The parents were consanguineous. Characteristic in both cases were the distal limb defects with brachytelephalangism and aplasia of the distal phalanges of the first toe. Since one of the two sibs had severe lung hypoplasia without macroscopic or microscopic defects of the diaphragm, we show that lung hypoplasia can occur independently from diaphragmatic defects in Fryns syndrome.<\/jats:p>","DOI":"10.1136\/jmg.31.12.962","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"962-964","source":"Crossref","is-referenced-by-count":14,"title":["Two fetuses with Fryns syndrome without diaphragmatic defects."],"prefix":"10.1136","volume":"31","author":[{"given":"K K","family":"Wilgenbus","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R","family":"Engers","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"Crombach","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F","family":"Majewski","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1994,12,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1007\/BF00295591","article-title":"A new lethal syndrome with cloudy comeae, diaphragmatic defects and distal limb deformities","volume":"50","author":"Fryns, J.P.; Moerman, F.; Gooddeeris, P.; Bossuyt, C.; Van den Berghe, H.","year":"1979","unstructured":"Fryns JP, Moerman F, Gooddeeris P, Bossuyt C, Van den Berghe H. A new lethal syndrome with cloudy comeae, diaphragmatic defects and distal limb deformities. Hum Genet 1979;50:65-70.","journal-title":"Hum Genet"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"805","DOI":"10.1002\/ajmg.1320310413","article-title":"The syndrome of diaphragmatic hemia, abnormal face and distal limb anomalies (Fryns syndrome): report of two sibs with further delineation of the multiple congenital anomalies","volume":"31","author":"Moerman, P.; Fryns, J.P.; Vandenberghe, K.; Devlieger, H.; Lauweryns, J.M.","year":"1988","unstructured":"Moerman P, Fryns JP, Vandenberghe K, Devlieger H, Lauweryns JM. The syndrome of diaphragmatic hemia, abnormal face and distal limb anomalies (Fryns syndrome): report of two sibs with further delineation of the multiple congenital anomalies. Am JMed Genet 1988;31:805-14.","journal-title":"Am JMed Genet"},{"key":"ref_3","first-page":"93","article-title":"et aL Congenital diaphragmatic hemia, coarse facies, and acral hypoplasia: Fryns syndrome","volume":"32","author":"Bamford, J.S.; Leonard, C.O.; Chodirker, B.N.","year":"1989","unstructured":"Bamford JS, Leonard CO, Chodirker BN, et aL Congenital diaphragmatic hemia, coarse facies, and acral hypoplasia: Fryns syndrome. AmJtMed Genet 1989;32:93-9.","journal-title":"AmJtMed Genet"},{"key":"ref_4","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 hemia, and digital hypoplasia","volume":"85","author":"Cunniff, C.; Jones, K.L.; Saal, H.M.; Stem, H.J.","year":"1990","unstructured":"Cunniff C, Jones KL, Saal HM, Stem HJ. Fryns syndrome: an autosomal recessive disorder associated with craniofacial anomalies, diaphragmatic hemia, and digital hypoplasia. Pediatrics 1990;85:499-504.","journal-title":"Pediatrics"},{"key":"ref_5","first-page":"469","article-title":"Apparent Fryns syndrome in a boy with a tandem duplication of 1 q24-31.2. AmJ7Med Genet 1989; 34: 422-6. 6 deJong G, Roussow RA, Retief AE. Ring chromosome 15 in a patient with features of Fryns syndrome","volume":"26","author":"Clark, R.D.; Fenner-Gonzales, M.","year":"1989","unstructured":"Clark RD, Fenner-Gonzales M. Apparent Fryns syndrome in a boy with a tandem duplication of 1 q24-31.2. AmJ7Med Genet 1989;34:422-6. 6 deJong G, Roussow RA, Retief AE. Ring chromosome 15 in a patient with features of Fryns syndrome. Med Genet 1989;26:469-70.","journal-title":"Med Genet"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1002\/ajmg.1320360327","article-title":"Terminal deletion of 6q and Fryns syndrome: a microdeletion\/syndrome pair?","volume":"36","author":"KrassikoffN, Sekhon G.S.","year":"1990","unstructured":"KrassikoffN, Sekhon GS. Terminal deletion of 6q and Fryns syndrome: a microdeletion\/syndrome pair?Am JMed Genet 1990;36:363-4.","journal-title":"Am JMed Genet"},{"key":"ref_7","first-page":"275","article-title":"A second case of Fryns syndrome associated with a duplication of 1q2232; a karyotype association for diaphragmatic hemia","volume":"49","author":"Schneider, M.; Suhr, L.; Hawkins, H.; Hughes, M.","year":"1991","unstructured":"Schneider M, Suhr L, Hawkins H, Hughes M. A second case of Fryns syndrome associated with a duplication of 1q2232; a karyotype association for diaphragmatic hemia. Am Y Hum Genet 1991;49:275.","journal-title":"Am Y Hum Genet"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"516","DOI":"10.1111\/j.1399-0004.1985.tb00419.x","article-title":"The Fryns syndrome: diaphragmatic defects, craniofacial dysmorphism, and distal hypoplasia","volume":"28","author":"Meinecke, P.; Fryns, J.P.","year":"1985","unstructured":"Meinecke P, Fryns JP. The Fryns syndrome: diaphragmatic defects, craniofacial dysmorphism, and distal hypoplasia. Clin Genet 1985;28:516-20.","journal-title":"Clin Genet"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1111\/j.1651-2227.1987.tb10441.x","article-title":"Fryns syndrome in a girl bom to consanguineous parents","volume":"76","author":"Schwyzer, U.; Briner, J.; Schinzel, A.","year":"1987","unstructured":"Schwyzer U, Briner J, Schinzel A. Fryns syndrome in a girl bom to consanguineous parents. Acta Paediatr Scand 1987; 76:167-71.","journal-title":"Acta Paediatr Scand"},{"key":"ref_10","first-page":"191","article-title":"Fryns syndrome: report","volume-title":"on 8 new cases. Clin Genet","volume":"35","author":"Ayme, S.; Gambarelli, Julien C.; D.","year":"1989","unstructured":"Ayme S,Julien C. Gambarelli D, et al. Fryns syndrome: report on 8 new cases. Clin Genet 1989;35:191-201."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1002\/ajmg.1320140309","article-title":"Fryns syndrome: a variable multiple congenital anomaly (MCA) syndrome","volume":"14","author":"Lubinsky, M.; Sevem, C.; Rapoport, J.M.","year":"1983","unstructured":"Lubinsky M, Sevem C, Rapoport JM. Fryns syndrome: a variable multiple congenital anomaly (MCA) syndrome. AmJMed Genet 1983;14:461-6.","journal-title":"AmJMed Genet"},{"key":"ref_12","first-page":"562","article-title":"Fryns syndrome","volume":"45","author":"Stratton, R.F.; Young, R.S.; Heiman, H.S.; Carter, J.M.","year":"1993","unstructured":"Stratton RF, Young RS, Heiman HS, Carter JM. Fryns syndrome. AmJ3Med Genet 1993;45:562-4."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1002\/ajmg.1320410225","article-title":"Fryns syndrome without diaphragmatic hemia","volume":"41","author":"Willems, P.J.; Keersmaekers, G.H.A.; Dom, K.E.","year":"1991","unstructured":"Willems PJ, Keersmaekers GHA, Dom KE, et al. Fryns syndrome without diaphragmatic hemia. 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