{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,25]],"date-time":"2025-11-25T15:36:58Z","timestamp":1764085018834,"version":"build-2065373602"},"reference-count":9,"publisher":"BMJ","issue":"11","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1988,11]]},"abstract":"<jats:p>Three children are reported, a male and female sib pair of Sikh origin and a male child who was the offspring of first cousin Pakistani Muslims, with Hirschsprung's disease, hypoplastic nails, and similar minor dysmorphic features. We consider that they represent a distinct autosomal recessive syndrome.<\/jats:p>","DOI":"10.1136\/jmg.25.11.758","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"758-761","source":"Crossref","is-referenced-by-count":9,"title":["Hirschsprung's disease, hypoplastic nails, and minor dysmorphic features: a distinct autosomal recessive syndrome?"],"prefix":"10.1136","volume":"25","author":[{"given":"L I","family":"al-Gazali","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D","family":"Donnai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R F","family":"Mueller","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1988,11,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"977","DOI":"10.1016\/S0022-3476(71)80193-2","article-title":"Severe developmental failure with coarse facial features, distal limb hypoplasia, thickened palmar creases, bifid uvula, and ureteral stenosis: a previously unidentified familial disorder with lethal outcome","volume":"79","author":"Rudiger, R.A.; Schmidt, W.; Loose, D.A.; Passarge, E.","year":"1971","unstructured":"Rudiger RA, Schmidt W, Loose DA, Passarge E. Severe developmental failure with coarse facial features, distal limb hypoplasia, thickened palmar creases, bifid uvula, and ureteral stenosis: a previously unidentified familial disorder with lethal outcome. J Pediatr 1971;79:977-81.","journal-title":"J Pediatr"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1007\/BF00295591","article-title":"A new lethal syndrome with cloudy corneae, diaphragmatic defects and distal limb deformities","volume":"50","author":"Fryns, J.P.; Moerman, F.; Goddeeris, P.; Bossuyt, C.; Van den Berghe, H.","year":"1979","unstructured":"Fryns JP, Moerman F, Goddeeris P, Bossuyt C, Van den Berghe H. A new lethal syndrome with cloudy corneae, diaphragmatic defects and distal limb deformities. Hum Genet 1979;50:65-70.","journal-title":"Hum Genet"},{"key":"ref_3","first-page":"57","article-title":"Diaphragmatic defects, craniofacial dysmorphism, cleft palate and distal limb deformities-a new lethal syndrome","volume":"28","author":"disease, Hirschsprung's; hypoplastic nails; minor dysmorphic features Goddeeris P; JP, Fryns; den Berghe H, Van","year":"1980","unstructured":"Hirschsprung's disease, hypoplastic nails, and minor dysmorphic features Goddeeris P, Fryns JP, Van den Berghe H. Diaphragmatic defects, craniofacial dysmorphism, cleft palate and distal limb deformities-a new lethal syndrome. J Genet Hum 1980;28: 57-60.","journal-title":"J Genet Hum"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1002\/ajmg.1320140309","article-title":"Fryns syndrome: a new variable multiple congenital anomaly (MCA) syndrome","volume":"14","author":"Lubinsky, M.; Severn, C.; Rapoport, J.M.","year":"1983","unstructured":"Lubinsky M, Severn C, Rapoport JM. Fryns syndrome: a new variable multiple congenital anomaly (MCA) syndrome. Am J Med Genet 1983;14:461-6.","journal-title":"Am J Med Genet"},{"key":"ref_5","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 digital 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 digital hypoplasia. Clin Genet 1985;28:516-20.","journal-title":"Clin Genet"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1136\/jmg.23.1.82","article-title":"A case of Fryns syndrome","volume":"23","author":"Young, I.D.; Simpson, K.; Winter, R.M.","year":"1986","unstructured":"Young ID, Simpson K, Winter RM. A case of Fryns syndrome. J Med Genet 1986;23:82-4.","journal-title":"J Med Genet"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1136\/jmg.24.5.271","article-title":"Fryns syndrome: a variable MCA syndrome with diaphragmatic defects, coarse face, and distal limb hypoplasia","volume":"24","author":"Fryns, J.P.","year":"1987","unstructured":"Fryns JP. Fryns syndrome: a variable MCA syndrome with diaphragmatic defects, coarse face, and distal limb hypoplasia. J Med Genet 1987;24:271-4.","journal-title":"J Med Genet"},{"key":"ref_8","first-page":"509","volume":"24","author":"Winter, R.M.; Baraitser, M.","year":"1987","unstructured":"Winter RM, Baraitser M. The London Dysmorphology Database. J Med Genet 1987;24:509-10.","journal-title":"The London Dysmorphology Database. J Med Genet"},{"key":"ref_9","first-page":"118","article-title":"A new familial syndrome with Hirschsprung's disease, cleft palate, digital abnormalities, mental retardation and growth deficiency","volume":"27","author":"Curry, C.J.; Hall, B.D.","year":"1979","unstructured":"Curry CJ, Hall BD. A new familial syndrome with Hirschsprung's disease, cleft palate, digital abnormalities, mental retardation and growth deficiency. 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