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2. A previously undescribed autosomal recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome with growth failure, lip/palate cleft(s), and urogenital anomalies. Malpuech G, Demeocq F, Palcoux JB, Vanlieferinghen P. Am J Med Genet; 1983 Dec; 16(4):475-80. PubMed ID: 6660246 [Abstract] [Full Text] [Related]
3. An apparently new syndrome of microcephalic primordial dwarfism and cataracts. Toriello HV, Horton WA, Oostendorp A, Waterman DF, Higgins JV. Am J Med Genet; 1986 Sep; 25(1):1-8. PubMed ID: 3799711 [Abstract] [Full Text] [Related]
4. [Short stature, mental retardation, type I preaxial polydactyly with colobomatous abnormalities: a new syndrome]. Pfeiffer RA, Mayer U. Klin Monbl Augenheilkd; 1987 Dec; 191(6):473-7. PubMed ID: 3441111 [Abstract] [Full Text] [Related]
6. Concurrence of Robinow syndrome and Crigler-Najar syndrome in two offspring of first cousins. Nazer H, Gunasekaran TS, Sakati NA, Nyhan WL. Am J Med Genet; 1990 Dec; 37(4):516-8. PubMed ID: 2260598 [Abstract] [Full Text] [Related]
8. Oral-facial-digital syndrome and retinal abnormalities with autosomal recessive inheritance. Jamieson R, Collins F. Am J Med Genet; 1993 Aug 15; 47(2):304-6. PubMed ID: 8213926 [No Abstract] [Full Text] [Related]
10. Cataract, hypertrichosis, and mental retardation (CAHMR): a new autosomal recessive syndrome. Temtamy SA, Sinbawy AH. Am J Med Genet; 1991 Dec 15; 41(4):432-3. PubMed ID: 1776632 [Abstract] [Full Text] [Related]
18. Previously undescribed spondyloepiphyseal dysplasia associated with craniosynostosis, cataracts, cleft palate, and mental retardation: report of four sibs. Nishimura G, Fukushima Y, Aihara T, Ohashi H, Nishimoto H, Nishimura J. Am J Med Genet; 1998 Apr 28; 77(1):1-7. PubMed ID: 9557884 [Abstract] [Full Text] [Related]
19. A new syndrome of dwarfism, brachydactyly, nail dysplasia, and mental retardation in sibs. Tonoki H, Kishino T, Niikawa N. Am J Med Genet; 1990 May 28; 36(1):89-93. PubMed ID: 2333912 [Abstract] [Full Text] [Related]
20. Costello syndrome: a postnatal growth retardation syndrome with distinct phenotype. Fryns JP, Vogels A, Haegeman J, Eggermont E, van den Berghe H. Genet Couns; 1994 May 28; 5(4):337-43. PubMed ID: 7888135 [Abstract] [Full Text] [Related] Page: [Next] [New Search]