These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
5. Mild growth retardation and developmental delay, microcephaly, and a distinctive facial appearance. Partington M; Anderson D Am J Med Genet; 1994 Jan; 49(2):247-50. PubMed ID: 7509568 [TBL] [Abstract][Full Text] [Related]
6. Fibrotic eye muscles, Axenfeld anomaly, flat face, and mild developmental retardation: a new example of the Chitty syndrome. Van Daele SG; Van Coster RN; Meire F; Smets AM; Leroy JG Am J Med Genet; 1996 Oct; 65(3):205-8. PubMed ID: 9240744 [TBL] [Abstract][Full Text] [Related]
7. Heterogeneity versus variability in megalocornea-mental retardation (MMR) syndromes: report of new cases and delineation of 4 probable types. Verloes A; Journel H; Elmer C; Misson JP; Le Merrer M; Kaplan J; Van Maldergem L; Deconinck H; Meire F Am J Med Genet; 1993 Apr; 46(2):132-7. PubMed ID: 8484397 [TBL] [Abstract][Full Text] [Related]
9. Ohdo-like blepharophimosis syndrome with distinctive facies, neonatal hypotonia, mental retardation and hypoplastic teeth. Clayton-Smith J; Krajewska-Walasek M; Fryer A; Donnai D Clin Dysmorphol; 1994 Apr; 3(2):115-20. PubMed ID: 8055130 [TBL] [Abstract][Full Text] [Related]
10. Dubowitz syndrome: long-term follow-up of an original patient. Hansen KE; Kirkpatrick SJ; Laxova R Am J Med Genet; 1995 Jan; 55(2):161-4. PubMed ID: 7536394 [TBL] [Abstract][Full Text] [Related]
11. Trisomy for the distal segment of the short arm of chromosome 17 in a boy with mild mental retardation and some dysmorphic features. Mégarbané A; Souraty N; Theophile D; Vekemans M; Samaras L; Ghorayeb Z Ann Genet; 1997; 40(1):55-9. PubMed ID: 9150851 [TBL] [Abstract][Full Text] [Related]
12. Megalocornea-mental retardation syndrome: report of a new case. Barisić I; Ligutić I; Zergollern L J Med Genet; 1996 Oct; 33(10):882-3. PubMed ID: 8933347 [TBL] [Abstract][Full Text] [Related]
13. Study of 30 patients with unexplained developmental delay and dysmorphic features or congenital abnormalities using conventional cytogenetics and multiplex FISH telomere (M-TEL) integrity assay. Popp S; Schulze B; Granzow M; Keller M; Holtgreve-Grez H; Schoell B; Brough M; Hager HD; Tariverdian G; Brown J; Kearney L; Jauch A Hum Genet; 2002 Jul; 111(1):31-9. PubMed ID: 12136233 [TBL] [Abstract][Full Text] [Related]
14. Additional case of Neuhäuser megalocornea and mental retardation syndrome with congenital hypotonia. Santolaya JM; Grijalbo A; Delgado A; Erdozaín G Am J Med Genet; 1992 Jun; 43(3):609-11. PubMed ID: 1605258 [TBL] [Abstract][Full Text] [Related]
15. Clinical findings and cytogenetic analysis of small supernumerary ring chromosomes 7: report of two new cases. Chantot-Bastaraud S; Muti C; Pipiras E; Routon MC; Roubergue A; Burglen L; Siffroi JP; Simon-Bouy B Ann Genet; 2004; 47(3):241-9. PubMed ID: 15337469 [TBL] [Abstract][Full Text] [Related]
17. Megalocornea associated with multiple skeletal anomalies: a new genetic syndrome? Frank Y; Ziprkowski M; Romano A; Stein R; Katznelson MB; Cohen B; Goodman RM J Genet Hum; 1973 Jun; 21(2):67-72. PubMed ID: 4805907 [No Abstract] [Full Text] [Related]
18. Megalocornea and mental retardation syndrome: two new cases. Del Giudice E; Sartorio R; Romano A; Carrozzo R; Andria G Am J Med Genet; 1987 Feb; 26(2):417-20. PubMed ID: 3812592 [TBL] [Abstract][Full Text] [Related]
19. Megalocornea and mental retardation syndrome. Raas-Rothschild A; Berkenstadt M; Goodman RM Am J Med Genet; 1988 Jan; 29(1):221-3. PubMed ID: 3344772 [No Abstract] [Full Text] [Related]
20. Megalocornea-urticaria pigmentosa syndrome--a new syndrome? Avela K; Alen R; Huttunen M; Pärssinen O Eur J Med Genet; 2009; 52(6):430-2. PubMed ID: 19706342 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]