A 19-week-old fetus with craniosynostosis, renal agenesis and gastroschisis: Case report and differential diagnosis

Pathology Research and Practice

Volumn 193, Issue 8, 1997, Pages 579-585

  Sergi, Consolato ^a   Stein, Henning ^a   Heep, Josef G ^b   Otto, Herwart F ^a  

^a UNIVERSITY OF HEIDELBERG   (Germany)

^b St Josefs Krankenhaus   (Germany)

Author keywords

Craniosynostosis; Gastroschisis; Renal angenesis

Indexed keywords

ARTICLE; AUTOPSY; CLINICAL FEATURE; CRANIOFACIAL SYNOSTOSIS; DIFFERENTIAL DIAGNOSIS; EXOPHTHALMOS; FETUS; GASTROSCHISIS; GESTATIONAL AGE; HUMAN; HUMAN TISSUE; HYPERTELORISM; KIDNEY AGENESIS; MAXILLA HYPOPLASIA; PROGNATHIA; SOLITARY KIDNEY;

EID: 0030696215     PISSN: 03440338     EISSN: None     Source Type: Journal    
DOI: 10.1016/s0344-0338(97)80018-0     Document Type: Article

References (55)

1. Atkinson FRB (1937) Hereditary craniofacial dysostosis or Crouzon's disease. Med Press Circular 195: 118-24
2. Barr M Jr, Heidelberger KP, Comstock CH (1995) Craniomicromelic syndrome: a newly recognized lethal condition with craniosynostosis, distinct facial anomalies, short limbs, and intrauterine growth retardation. Am J Med Genet 58: 348-52
3. Bugge M, Petersen MB, Christensen MF (1994) Monozygotic twins discordant for gastroschisis: case report and review of the literature of twins and familial occurrence of gastroschisis. Am J Med Genet 52: 223-6
4. Calzolari E, Bianchi F, Dolk H, Milan M and EUROCAT Working Group (1995) Omphalocele and gastroschisis in Europe: a survery of 3 million births 1980-1990. Am J Med Genet 58: 187-194
5. Camera G, Lituania M, Cohen MM Jr (1993) Holoprosencephaly and primary craniosynostosis: the Genoa syndrome. Am J Med Genet 47: 1161-5
6. Charnas L, Hofman KJ, Rosenbaum KN (1989) Crouzon syndrome: evidence of incomplete penetrance. Am J Med Genet 45S: 43 (A)
7. Chumas PD, Cinalli G, Arnaud E, Marchac D, Renier D (1997) Classification of previously unclassified cases of craniosynostosis. J Neurosurg 86: 177-81
8. Cinalli G, Renier D, Sebag G, Sainte-Rose C, Arnaud E, Pierre-Kahn A (1995) Chronic tonsillar herniation in Crouzon's and Apert's syndromes: the role of premature synostosis of the lambdoid suture. J Neurosurg 83: 575-582
9. Cohen MM Jr (1986) Syndromes with craniosynostosis. In: Cohen MM Jr (Ed) Craniosynostosis: diagnosis, evaluation, and management, pp 413-590. Raven Press, NY
10. Cohen MM Jr, Kreiborg S (1992) Birth prevalence studies of the Crouzon syndrome: comparison of direct and indirect methods. Clin Genet 41: 12-5
11. Cohen MM Jr (1996) Lambdoid synostosis is an over-diagnosed condition. Am J Med Genet 61: 98-9
12. Cormier Daire V, Lyonnet S, Lehnert A, Martin D, Salomon R, Patey N, Broyer M, Ricour C, Munnich A (1995) Craniosynostosis and kidney malformation in a case of Hennekam syndrome. Am J Med Gent 22: 66-8
13. Cross HE, Opitz JM (1969) Craniosynostosis in the Amish. J Pediatr 75: 1037-44
14. Cunniff C, Jones KL (1990) Cranuosynostosis and lid anomalies: report of a girl with Michels syndrome. Am J Med Genet 37: 28-30
15. Drongowski RA, Smith RK Jr, Coran AG, Klein MD (1991) Contribution of demographic and environmental factors to the etiology of gastroschisis: a hypothesis. Fetal Diagn Ther 6: 14-27
16. Eppley BL, Sadove AM (1995) Resorbable coupling fixation in craniosynostosis surgery: experimental and clinical applications. J Craniofac Surg 6: 477-82
17. Frydman M, Kauschansky A and Elian E (1984) Trigonocephlay: A New Familial Syndrome. Am J Med Gen 18: 55-9
18. Greitzer LJ, Jones KL, Schnall BS, Smith DW (1974) Craniosynostosis-radial aplasia syndrome. J Pediatr 84: 723-4
19. Haddow JE, Palomaki GE, Holman MS (1993) Young maternal age and smoking during pregnancy as risk factors for gastroschisis. Teratology 47: 225-8
20. Hassell S, Butler MG (1994) Antley-Bixler syndrome: report of a patient and review of literature. Clin Genet 46: 372-6
21. Ilyina HG, Lurie IW (1990) Dubowitz syndrome: possible evidence for a clinical subtype. Am J Med Genet 35: 561-5
22. Jabs EW, Muller U, Li X, Ma L, Luo W, Haworth IS, Klisak I, Sparkes R, Warman ML, Mulliken JB, et al. (1993) A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis. Cell 75: 443-50
23. Jabs, EW, Li X, Scott AF, Meyers G, Chen W, Eccles M, Mao JI, Charans LR, Jackson CE, Jaye M (1994) Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. Nat Genet 8: 275-9
24. Jones KL (1997) Craniosynostosis syndromes. In: Jones KL (Ed) Smith's recognizable Patterns of Human Malformation, pp 412-31. W. B. Saunders Company, Philadelphia
25. Juberg RC, Chambers SR (1973) An autosomal recessive form of craniofacial dysostosis (the Crouzon syndrome). J Med Genet 10: 89-93
26. Kaplan P, Plauchu H, Fitsch N, Jequier S (1988) A new acro-cranio-facial dysostosis syndrome in sisters. Am J Med Genet 29: 95-106
27. Khiem DT (1969) Malformations rénales et maladie de Crouzon. Acta Urologica Belgica 37: 149-50
28. Koppe R, Kaplan P, Hunter A, MacMurray B (1989) Ambiguous genitalia associated with skeletal abnormalities, cutis laxa, craniostenosis, psychomotit retardation, and facial abnormalities (SCARF syndrome). Am J Med Genet 34: 305-12
29. Kreiborg S (1981) Crouzon syndrome. Scand J Plast Reconstr Surg 18 [S]: 1-198
30. Lambert D, Beer F, Jeannin-Magnificat C, Mabille JP, Israel J, Lambert-Weyl M, Nivelon-Chevalier A, Alison M (1983) Cutis laxa generalisée congenitale. Ann Dermatol Venereol 110: 129-38
31. Levin LS, Perrin JC, Ose L, Dorst JP, Miller JD, McKusick VA (1977) A heritable syndrome of craniosynostosis, short thin hair, abnormalities, and short limbs: cranioectodermal dysplasia. J Pediatr 90: 55-61
32. Lin AE, McPherson E, Nwokoro NA, Clemens M, Losken HW, Mulvihill JJ (1993) Further delineation of the Baller-Gerold syndrome. Am J Med Genet 45: 519-24
33. Lowry RB (1972) Congenital absence of the fibula and craniosynostosis in sibs. J Med Genet 9: 227-9
34. Ludman MD, Vincer MJ, Cron C, Aguiar M, Cohen MM Jr (1993) Hypomandibular faciocranial dysostosis: another case and review. Am J Med Genet 47: 352-6
35. Mc Kusick VA (1996) Online Mendelian inheritance in man, OMIM (TM). Center for Medical Genetics, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD), World Wide Web URL: http/www3.ncbi.nih.gov/omim/
36. Menashe Y, Ben Baruch G, Rabinovitch O, Shaley Y, Katzenlson MBM, Shaley E (1989) Exophthalsmus-Prenatal ultrasonic features for diagnosis of Crouzon Syndrome. Prenat Diagn 9: 805-8
37. Meyers GA, Orlow SJ, Munro IR, Przylepa KA, Jabs EW (1995) Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans. Nat Genet 11: 462-4
38. Muhlbauer W, Anderl H, Heeckt P, Schmidt A, Zenker J, Hopner F, Schaarschmidt B (1989) Early operation in craniofacial dysostosis. World J Surg 13: 366-72
39. Nevin NC, Herron B, Armstrong MJ (1994) An 18 week fetus with Elejalde syndrome (acrocephalopolydactylyous dysplasia). Clin Dysmorphol 3: 180-4
40. Neuhauser G, Kaveggia EG, Opitz JM (1976) Studies of malformation syndromes of man XXXIX: a craniosynostosis-craniofacial dysostosis with mental retardation and other malformations: "craniofacial dyssynostosis". Eur J Pediatr 123: 15-28
41. Parent P, Moulin S, Munck MR, de Parscau L, Alix D (1996) Le nanisme à tête d'oiseau ou syndrome de Seckel. Difficultés nosologiques. Arch Pediatr 3: 55-62
42. Pelias MZ, Superneau DW, Thurmon TF (1981) Brief clinical report: a sixth report (eighth case) of craniosynostosis-radial aplasia (Baller-Gerold) syndrome. Am J Med Genet 10: 133-9
43. Preis S, Kaewel EV, Majeski F (1995) Gorlin-Chaudhry-Moss or Saethre-Chotzen syndrome? Clin Genet 47: 267-9
44. Reardon W, Winter RM, Rutland P, Pulleyn LJ, Jones BM, Malcolm S (1994) Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. Nat Genet 8: 98-103
45. Reichenbach H, Hormann D, Theile H (1993) Ein weiterer Fall mit Baller-Gerold-Syndrom (Craniosynostosis - Radial Aplasia Syndrome) - Überblick und neue Gesichtspunkte bei einem seltenen Syndrom. Kinderarztl Prax 61: 161-7
46. Richieri-Costa A, Guion-Almeida ML, Cohen MM Jr (1993) Newly recognized autosomal recessive MCA/MR/overgrowth syndrome. Am J Med Genet 47: 278-80
47. Rollnick BR (1988) Germinal mosaicism in Crouzon syndrome. Clin Genet 33: 145-150
48. Schinzel A, Savoldelli G, Briner J, Sigg P, Massini C (1983) Antley-Bixler Syndrome in Sisters: A Term Newborn and a Prenatally Diagnosed Fetus. Am J Med Genet 14: 139-47
49. Shiller JG (1959) Craniofacial dysostosis of Crouzon: a case report and pedigree with emphasis on heredity. Pediatrics 23: 107-12
50. Singer DB, Sung CJ, Wigglesworth JS (1991) Fetal Growth and Maturation: with Standards for Body and Organ Development. In Wigglesworth JS and Singer DB (Eds) Textbook of Fetal and perinatal Pathology, Vol. 1, pp 11-47. Blackwell Scientific Publications, Boston
51. Stratton RF, Sykes NJ, Hassler TW (1990) C syndrome with apparently normal development. Am J Med Genet 37: 460-2
52. Wagstaff J, Hemann M (1995) A Familial "Balanced" 3; 9 Translocation with Cryptic 8q Insertion Leading to Deletion and Duplication of 9p23 Loci in Siblings. Am J Hum Genet 56: 302-9
53. Werler MM, Mitchel AA, Shapiro S (1992) First trimester maternal medication use in relation to gastroschisis. Teratology 45: 361-7
54. Werler MM, Mitchell AA, Shapiro S (1992) Demographic, reproductive, medical, and environmental factors in relation to gastroschisis. Teratology 45: 353-60
55. Young P, Peaty TH, Khoury MJ, Chee E, Stewart W, Gordis L (1992) Genetic-epidemiologic study of omphalocele and gastroshisis: evidence for heterogeneity. Am J Med Genet 45: 668-675