Abstract
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.
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- Fryns J. P. Fryns syndrome: a variable MCA syndrome with diaphragmatic defects, coarse face, and distal limb hypoplasia. J Med Genet. 1987 May;24(5):271–274. doi: 10.1136/jmg.24.5.271. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Fryns J. P., 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(1):65–70. doi: 10.1007/BF00295591. [DOI] [PubMed] [Google Scholar]
- Goddeeris P., Fryns J. P., van den Berghe H. Diaphragmatic defects, craniofacial dysmorphism, cleft palate and distal limb deformities. - a new lethal syndrome. J Genet Hum. 1980 Mar;28(1):57–60. [PubMed] [Google Scholar]
- Lubinsky M., Severn C., Rapoport J. M. Fryns syndrome: a new variable multiple congenital anomaly (MCA) syndrome. Am J Med Genet. 1983 Mar;14(3):461–466. doi: 10.1002/ajmg.1320140309. [DOI] [PubMed] [Google Scholar]
- Meinecke P., Fryns J. P. The Fryns syndrome: diaphragmatic defects, craniofacial dysmorphism, and distal digital hypoplasia. Further evidence for autosomal recessive inheritance. Clin Genet. 1985 Dec;28(6):516–520. doi: 10.1111/j.1399-0004.1985.tb00419.x. [DOI] [PubMed] [Google Scholar]
- Rüdiger R. A., Schmidt W., Loose D. A., 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 Dec;79(6):977–981. doi: 10.1016/s0022-3476(71)80193-2. [DOI] [PubMed] [Google Scholar]
- Winter R. M., Baraitser M. The London Dysmorphology Database. J Med Genet. 1987 Aug;24(8):509–510. doi: 10.1136/jmg.24.8.509. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Young I. D., Simpson K., Winter R. M. A case of Fryns syndrome. J Med Genet. 1986 Feb;23(1):82–84. doi: 10.1136/jmg.23.1.82. [DOI] [PMC free article] [PubMed] [Google Scholar]