6. McKusick VA.The defect in Marfan syndrome. Nature. 1991;352:279-291.
7.
7. Dietz HC, Cutting GR, Pyeritz RE, et al. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature. 1991;352: 337-339.
8.
8. Maslen CL, Corson GM, Maddox BK, et al. Partial sequence of a candidate gene for the Marfan syndrome. Nature. 1991;352:334-337.
9.
9. Lee B, Godfrey M, Vitale E, et al. Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes. Nature. 1991; 352:330-334.
10.
10. Milewicz DM, Duvic M. Severe neonatal Marfan syndrome resulting from a de novo 3-bp insertion into the fibrillin gene on chromosome 15. Am JHum Genet. 1994;54:447-453.
11.
11. Godfrey M, Vandemark N, Wang M, et al. Prenatal diagnosis and a donor splice site mutation in fibrillin in a family with Marfan syndrome. Am JHum Genet. 1993;53:472-480.
12.
12. Pyeritz RE, McKusick VA.The Marfan syndrome: diagnosis and management. NEngl JMed. 1979;300:772-777.
13.
13. Skovby F, McKusick VA.Estrogen treatment of tall stature in girls with the Marfan syndrome. Birth Defects: Original Article Series. 1977;13:155-161.
14.
14. Joseph KN, Kane HA, Milner RS, et al. Orthopedic aspects of the Marfan phenotype. Clin Orthop Related Res. 1992;277:251-261.
15.
15. Pyeritz RE.Protection of the aortic root by propranolol in Marfan syndrome. JMed Genet. 1986;23:469-469.
16.
16. Gott VL, Pyeritz RE, Magovern GJ Jr, et al. Surgical treatment of aneurysms of the ascending aorta in the Marfan syndrome. Results of composite-graft repair in 50 patients. N Engl J Med. 1986;314:1070-1074.
17.
17. Beals RK, Hecht F.Congenital contractual arachnodactyly. A heritable disorder of connective tissueJ Bone Joint Surg1971;53:987-993.
18.
18. Hecht F, Beals RK.“New” syndrome of congenital contractual arachnodactyly originally described by Marfan in 1896. Pediatrics. 1972;49:574-579.
19.
19. Ramos Arroyo MA, Weaver DD, Beals RK.Congenital contractual arachnodactyly. Report of four additional families and review of literature. Clin Genet. 1985;27:570-581.
20.
20. Carson NAJ, et al. Homocystinuria: a new inborn error of metabolism associated with mental deficiency. Arch Dis Child. 1963;27:570-570.
21.
21. Gerritsen T, Waisman HA.Homocystinuria: an error in the metabolism of methionine. Pediatrics. 1964;33: 413-413.
22.
22. Mudd SH, Skovby F, Levy HL, et al. The natural history of homocystinuria due to cystathionine beta-synthase deficiency Am j um. Genet. 1985;37: 1-31.
23.
23. Mudd SH, Levy HL, Skovby F.Disorders of transsulfuration. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic Basis of Inherited Disease, 6th ed.New York: McGraw-Hill; 1989; 693-734.
24.
24. Palareti G, Salardi S, Piazzi S, et al. Blood coagulation changes in homocystinuria: effects of pyridoxine and other specific therapyPediatr. 1986; 109:1001-1006.
25.
25. Sotos JF, Dodge PR, Muirhead D, et al. Cerebral gigantism in childhood: a syndrome of excessively rapid growth and acromegalic features and a nonprogressive neural disorder. N Engl J Med. 1964;271:109-116.
27. Jaeken J.Cerebral gigantism syndrome: a report of 4 cases and review of the literature. Z Kinderheilkunde. 1972;112:332-346.
28.
28. Wit JM, Beemer FA, Barth PG, et al. Cerebral gigantism (Sotos syndrome). Compiled data of 22 cases. Analysis of clinical features, growth and plasma somatomedin. Eur JPediatr. 1985;144: 131-140.
29.
29. Cole TR, Hughes HE.Sotos syndrome: a study of the diagnostic criteria and natural historyMed Genet. 1994;31:20-32.
30.
30. Dodge PR, Holmes SJ, Sotos JF. Cerebral gigantism. Dev Med Child Neurol. 1983;25:248-252.
31.
31. Rutter SC, Cole TR.Psychological characteristics of Sotos syndrome. Dev Med Child Neuro L1991;33:898-902.
32.
32. Battaglia A, Ferrari AR.Cognitive and psychological profiles in dysmorphic syndromes. Pediatria Med Chir. 1993; 15 (Suppl 1):23-25.
33.
33. Sotos JF, Romshe CA, Cutler EA.Cerebral gigantism and primary hypothyroidism: pleiotropy or incidental concurrence. Am J Med Genet. 1978;2: 201-205.
34.
34. Hook EB, Reynolds JW.Cerebral gigantism: endocrinological and clinical observations of six patients including a congenital giant, concordant monozygotic twins and a child who achieved adult gigantic size. J Pediatr. 1967;70:900-914.
42. Goldstein DJ, Ward RE, Moore E, et al. Overgrowth, congenital hypotonia, nystagmus, strabismus, and mental retardation: variant of dominantly inherited Sotos sequence? AmJ Med Genet. 1988;29:783-792.
43.
43. Nevo S, Zeltzer M, Benderly A, Levy J.Evidence of autosomal recessive inheritance in cerebral gigantism. JMed Genet. 1974;11:158-165.
44.
44. Ruvalcaba RNA, Myhre S, Smith DW.Sotos syndrome with intestinal polyposis and pigmentary changes of the genitalia. Clin Genet. 1980;18:413-416.
45.
45. Stengel-Rutkowski S, Apacik C, Kreyenberg K, et al. The fragile-X phenotype. Computer assisted analysis of the dysmorphological features and discrimination from the Sotos phenotype. Genet Counseling. 1993;4: 51-58.
46.
46. Beemer FA, Veenema H, de Pater JM.Cerebral gigantism (Sotos syndrome) in two patients with fra(X) chromosomes. Am J Med Genet. 1986;23:221-226.
47.
47. Schrande-Srumpel CT, Frynes JP, Hamers GG. Sotos syndrome and de novo balanced autosomal translocation (t(3;6)-(p21;p21)). Clin Genet. 1990;37:226-229.
48.
48. Tamaki K, Horie K, Go T, et al. Sotos syndrome with a balanced reciprocal translocation t(2;12) (q33.3;qI5). Ann Genet (Paris). 1989;32:244-246.
49.
49. Haeusler G, Guchev Z, Kohler I, et al. Constitutional chromosome anomalies in patients with cerebral gigantism (Sotos syndrome). Klin Padiatr. 1993;205:351-353.
50.
50. Cole TR, Hughes HE, Jeffreys MJ, et al. Small cell lung carcinoma in a patient with Sotos syndrome: are genes at 3p21 involved in both conditions?JMed Genet. 1992;29:338-341.
51.
51. Butler MG, Meaney FJ, Kittur S, et al. Metacarpophalangeal pattern profile analysis in Sotos syndrome. Am JMed Genet. 1985;20:625-629.
52.
52. Dijkstra PF, Cole TR, Oorthuys JW, et al. Metacarpophalangeal pattern profile analysis in Sotos and Marfan syndrome. Am JMed Genet. 1994;51:55-60.
53.
53. Seyedabadi S, Bard DS, Zuna RE, et al. Epidermoid carcinoma of the vagina in a patient with cerebral gigantism. JArkansas Med Soc. 1981;78:123-127.
54.
54. Hersh JH, Cole TR, Bloom AS, et al. Risk of malignancy in Sotos syndromeJ. Pediatr. 1992;120(4 Ptl): 572-574.