Holoprosencephaly: Epidemiologic and clinical characteristics of a california population

American Journal of Medical Genetics

Volumn 64, Issue 3, 1996, Pages 465-472

  Croen, Lisa A ^a,c   Shaw, Gary M ^a   Lammer, Edward J ^b  

^a March of Dimes Birth Defects Foundation   (United States)

^b CHILDREN S HOSPITAL OAKLAND   (United States)

^c California Birth Defects Monitoring Program   (United States)

Author keywords

alobar; epidemiology; holoprosencephaly

Indexed keywords

ARTICLE; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME TRANSLOCATION; CONTROLLED STUDY; FACE MALFORMATION; FAMILY HISTORY; FEMALE; FETUS; FOREBRAIN; HOLOPROSENCEPHALY; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; POPULATION RESEARCH; PRIORITY JOURNAL; TRISOMY 13; UNITED STATES;

ADULT; CALIFORNIA; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 13; FACE; FEMALE; HOLOPROSENCEPHALY; HUMANS; INFANT; INFANT, NEWBORN; MALE; ODDS RATIO; PHENOTYPE; PREVALENCE; RISK; SEX FACTORS; SYNDROME; TRISOMY;

PIERINAE;

EID: 0029838858     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19960823)64:3<465::AID-AJMG4>3.0.CO;2-O     Document Type: Article

References (47)

1. Agapitos M, Georgiou-Theodoropoulou M, Koutselinis A, Papacharalampus N (1986): Cyclopia and maternal ingestion of salicylates. Pediatr Pathol 6:309-310.
2. Barr M Jr, Hanson JW, Currey K, Charp S, Toriello H, Schmickel RD, Wilson GN (1983): Holoprosencephaly in infants of diabetic mothers. J Pediatr 102:565-568.
3. Barr M Jr, Cohen MM Jr (1992): Survival and performance with isolated alobar holoprosencephaly. Proc Greenwood Genet Center 11:93-94.
4. Baty BJ, Blackburn BL, Carey JC (1994): Natural history of Trisomy 18 and Trisomy 13:1. Growth, physical assessment, medical histories, survival, and recurrence risk. Am J Med Genet 49:175-188.
5. Benawra R, Mangurten HH, Duffell DR (1980): Cyclopia and other anomalies following maternal ingestion of salicylates. J Pediatr 96:1069-1071.
6. Bönnemann C, Meinecke P (1991): Holoprosencephaly as a possible embryonic alcohol effect: Another observation [Letter]. Am J Med Genet 37:431-432.
7. Brown S, Jackey PE, Lien JM, Warburton D (1995): A small deletion in a putative "critical region" in chromosome 13q32 in a fetus with isolated holoprosencephaly. Am J Hum Genet 57:A109.
8. Byrne PJ, Silver MM, Gilbert JM, Cadera W, Tanswell AK (1987): Cyclopia and congenital cytomegalovirus infection. Am J Med Genet 28:61-65.
9. Cohen MM Jr, Gorlin RJ (1991): Pseudo-trisomy 13 syndrome. Am J Med Genet 39:332-335.
10. Cohen MM Jr, Gorlin RJ (1969): Genetic considerations in a sibship of cyclopia and clefts. In Bergsma D, McKusick V, Hall J, Scott C (eds): "The Clinical Delineation of Birth Defects: Part II. Malformation Syndrome." New York: Alan R. Liss, Inc., for the National Foundation - March of Dimes. BD:OAS 5 (2):113-118.
11. Cohen MM Jr, Jirasek JE, Guzman RT, Gorlin RJ, Peterson MQ (1971): Holoprosencephaly and facial dysmorphism: Nosology, etiology and pathogenesis. In Bergsma D (ed): "Third Conference on the Clinical Delineation of Birth Defects." Baltimore: for the National Foundation - March of Dimes - by Williams and Wilkins (1971). BD:OAS 7 (7):125-135.
12. Cohen MM Jr (1989a): Perspectives on holoprosencephaly: Part I. Epidemiology, genetics, and syndromology. Teratology 40:211-235.
13. Cohen MM Jr (1989b): Perspectives on holoprosencephaly: Part III. Spectra, distinctions, continuities, and discontinuities. Am J Med Genet 34:271-288.
14. Croon LA, Shaw GM, Jensvold NJ, Harris JA (1991): Birth defects monitoring in California: A resource for epidemiological research. Paed Perinatal Epidemiol 5:423-427.
15. DeMyer W, Zeman W, Palmer CG (1964): The face predicts the brain: diagnostic significance of median facial anomalies for holoprosencephaly (arhihencephaly). Pediatrics 34:256-263.
16. DeMyer W (1977): Holoprosencephaly (cyclopia-arhinencephaly). In Vinken PJ, Bruyn GW (eds): "Handbook of Clinical Neurology." Amsterdam: North-Holland Publishing Co., pp 431-478.
17. EGRET (1991): Statistics and Epidemiology Research Corporation. Seattle, Washington.
18. Fitch N, Srolovitz H, Robitaille Y, Guttman F (1978): Absent left hemidiaphragm, arhinencephaly, and cardiac malformations. J Med Genet 15:399-401.
19. Hall JG, Pallister PD, Clarren SK, Beckwith JB, Wiglesworth FW, Fraser FC, Cho S, Benke PJ, Reed SD (1980): Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly: A new syndrome? I. Clinical, causal, and pathogenetic considerations. Am J Med Genet 7:47-74.
20. Hamerton JL (1971): Clinical cytogenetics. In: "Human Cytogenetics, Vol II." New York: Academic Press, pp 1-545.
21. Hockey A, Crowhurst J, Cullity G (1988): Microcephaly, holoprosencephaly, hypokinesia-second report of a new syndrome. Pren Diagn 8:683-686.
22. Holmes LB, Harvey EA (1994): Holoprosencephaly and the teratogcnicity of anticonvulsants. Teratology 49:82.
23. Jellinger K, Gross H, Kaltenbäck E, Grisold W (1981): Holoprosencephaly and agenesis of the corpus callosum: frequency of associated malformations. Acta Neuropathol 55:1-10.
24. Khudr G, Olding L (1973): Cyclopia. Am J Dis Child 125:120-122.
25. Lammer EJ, Chen DT, Hoar RM, Agnish ND, Benke PJ, Braun JT, Curry CJ, Fernhoff PM, Grix AW, Lott IT, Richard JM, Sun SC (1985): Retinoic acid embryopathy. N Engl J Med 313:837-841.
26. Laurence KM, Ishmael J (1969): Arhinencephaly and 13-15(D) trisomy. Oxford Chromosome Conf. Proc. Chromosomes Today 2:86-89.
27. Lison MP, Armbrust-Figueiredo J, Mega D (1967): Arhinencephalia: Considerations à propos a case diagnosed during life. Acta Neurol Belg 67:25-36.
28. Mastroiacovo P, Botto LD, Cavalcanti DP, Zampino G, Serafini MA (1993): Epidemiological and genetic study of holoprosencephaly in 106 cases observed in the Italian Multicentric Registry 1978-1989. Proceedings of the First International Meeting of the Genetic and Reproductive Epidemiology Research Society (GRERS) 1:71-82.
29. Matsunaga EI, Shiota K (1977): Holoprosencephaly in human embryos: Epidemiologic studies of 150 cases. Teratology 16:261-272.
30. Ming P-M, Goodner DM, Park TS (1976): Cytogenetic variants in holoprosencephaly. Am J Dis Child 130:864-867.
31. Muenke M (1989): Clinical, cytogenetic, and molecular approaches to the genetic heterogeneity of holoprosencephaly. Am J Med Genet 34:237-245.
32. Muenke M, Gurrieri F, Bay C, Yi DH, Collins AL, Johnson VP, Hennekam RCM, Schaefer GB, Weik L, Lubinsky MS, Daack-Hirsch S, Moore CA, Dobyns WB, Murray JC, Price RA (1994): Linkage of a human brain malformation, familial holoprosencephaly, to chromosome 7 and evidence for genetic heterogeneity. Proceedings National Academy Sciences 91:8102-8106.
33. Muenke M, Bone LJ, Mitchell HF, Hart I, Walton K, Hall-Johnson K, Ippel EF, Dietz-Band J, Kvaløy K, Fan C-M, Tessier-Lavigne M, Patterson D (1995): Physical mapping of the holoprosencephaly critical region in 21q22.3, exclusion of SIM2 to a region of chromosome 21 important for Down Syndrome. Am J Hum Genet 57:1074-1079.
34. Overhauser J, Mitchell HF, Zackai EH, Tick DB, Rojas K, Muenke M (1995): Physical mapping of the holoprosencephaly critical region in 18p11.3. Am J Hum Genet 57:1080-1085.
35. Probst FP (1979): "The Prosencephalies: Morphology, Neuroradiological Appearances and Differential Diagnosis." Berling: Springer-Verlag, pp 1-25.
36. Roach E, DeMyer W, Conneally PM, Palmer C, Merritt AD (1975): Holoprosencephaly: birth data, genetic and demographic analyses of 30 families. In Bergsma D (ed): "Papers presented at the Johns Hopkins Hospital." New York: American Elsevier, for the National Foundation - March of Dimes - (1975). BD:OAS (11): 294-313.
37. Ronen GM, Andrews WL (1991): Holoprosencephaly as a possible embryonic alcohol effect. Am J Med Genet 40:151-154.
38. Ronen GM (1992): Holoprosencephaly and maternal low-calorie weight-reducing diet. Am J Med Genet 42:139.
39. Ronen GM, Andrews WL (1991): Holoprosencephaly as a possible embryonic alcohol effect. Am J Med Genet 40:151-154.
40. Schell U, Wienberg J, Köhler A, Bray-Ward P, Ward DE, Wilson WG, Allen WP, Lebel RR, Sawyer JR, Jacobs PA, Aughton DJ, Punnett HH, Lammer EJ, Kao F-T, Ward DC, Muenke M (1996): Molecular characterization of breakpoints in patients with holoprosencephaly and definition of the HPE2 critical region in 2p21. Hum Mol Genet 5:223-229.
41. Siebert JR, Cohen MM, Sulik KK, Shaw C-M, Lemire RJ (1990): "Holoproscencephaly: An Overview and Atlas of Cases." New York: Wiley-Liss, pp 1-397.
42. Stabile M, Bianco A, Iannuzzi S, Buonocore MC, Ventruto V (1985): A case of suspected teratogenic holoprosencephaly. J Med Genet 22:147-149.
43. Steinfeld HJ (1982): Case report 81: Holoprosencephaly and visceral defects with familial limb abnormalities. Syndrome Identification 8:1-2.
44. Urioste M, Valcarcel E, Gomez MA, Pinel I, Garcia de Leoacute;n R, Diaz de Bustamante A, Tebar R, Martinez-Frias ML (1988): Holoprosencephaly and Trisomy 21 in a child born to a nondiabetic mother. Am J Med Genet 30:925-928.
45. Verloes A, Aymé S, Gambarelli D, Gonzales M, Le Merrer M, Mulliez N, Philip N, Roume J (1991): Holoprosencephaly-polydactyly ("pseudotrisomy 13") syndrome: A syndrome with features of hydrolethalus and Smith-Lemli-Opitz syndromes. A collaborative multicentre study. J Med Genet 28:297-503.
46. Webster WS, Lipson AH, and Sulik KK (1988): Interference with gastrulation during the third week of pregnancy as a cause of some facial abnormalities and CNS defects. Am J Med Genet 31:505-512.
47. Yakovlev PI (1959): Pathoarchitectonic studies and cerebral malformations III. Arhinencephalies (holotelencephalie). J Neuropathol Exp Neurol 18:22-55.