Epidemiology of holoprosencephaly and phenotypic characteristics of affected children: New York State, 1984-1989

American Journal of Medical Genetics

Volumn 73, Issue 2, 1997, Pages 217-226

  Olsen, Carolyn L ^a   Hughes, Jeffery P ^b   Youngblood, Lois G ^b   Sharpe Stimac, Monica ^b  

^a STATE UNIVERSITY OF NEW YORK   (United States)

^b NEW YORK STATE DEPARTMENT OF HEALTH   (United States)

Author keywords

Brain malformations; Epidemiology; Holoprosencephaly

Indexed keywords

ARTICLE; CHILD; CHROMOSOME ABERRATION; CRANIOFACIAL MALFORMATION; EAR MALFORMATION; EYE MALFORMATION; FEMALE; GENETIC VARIABILITY; HOLOPROSENCEPHALY; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; NEWBORN; NOSE MALFORMATION; PHENOTYPE; PREVALENCE; PRIORITY JOURNAL;

CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; CRANIOFACIAL ABNORMALITIES; EYE ABNORMALITIES; FEMALE; HOLOPROSENCEPHALY; HUMANS; INFANT; INFANT, NEWBORN; MALE; NEW YORK; NOSE; PHENOTYPE; PREVALENCE; VARIATION (GENETICS);

EID: 0030734649     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19971212)73:2<217::AID-AJMG20>3.0.CO;2-S     Document Type: Article

References (30)

1. Barr M Jr, Hanson JW, Curry K, Sharp S, Toriello H, Schmickel RD, Wilson GN (1983): Holoprosencephaly in infants of diabetic mothers. J Pediatr 102:565-568.
2. Benawra RI, Mangurten HH, Duffell DR (1980): Cyclopia and other anomalies following maternal ingestion of salicylates. J Pediatr 96: 1069-1071.
3. Byrne PJ, Sliver MM, Gilbert JM, Cadera W, Tanswell AK (1987): Cyclopia and congenital cytomegalovirus infection. Am J Med Genet 28:61-65.
4. Cohen MM (1989): Perspectives on holoprosencephaly: Part I. Epidemiology, genetics, and syndromology. Teratology 4:211-235.
5. Corsello G, Buttitta P, Cammarata M, LoPresti A, Maresi E, Zampani L (1990): Holoprosencephaly: Examples of clinical variability and etiologic heterogeneity. Am J Med Genet 37:244-249.
6. Croen LA, Shaw GM, Lammer EJ (1996): Holoprosencephaly: Epidemiologic and clinical characteristics of a California population. Am J Med Genet 64:465-472.
7. DeMyer W (1977): Holoprosencephaly (cyclopia-arinencephaly). In Vinken PJ, Bruyn GW (eds): "Handbook of Clinical Neurology." Amsterdam: North-Holland Publishing Co., pp 431-478.
8. DeMyer W, Zeman W, Palmer C (1964): The face predicts the brain: Diagnostic significance of median facial anomalies for holoprosencephaly (arhinencephaly). Pediatrics 34:256-263.
9. Druschel C, Hughes J, Olsen C (1996): Mortality among infants with congenital malformations, New York State, 1983 to 1988. Public Health Rep 111:359-365.
10. Engelgau MM, Herman WH, Smith PJ, German RR, Aubert RE (1995): The epidemiology of diabetes and pregnancy in the US. 1988. Diabetes Care 18:1029-1033 (abstract).
11. Gorlin RJ, Cohen MM, Levin LS (1990): "Syndromes of the Head and Neck." New York: Oxford University Press, pp 573-582.
12. Janssen PA, Rothman I, Schwarz SM (1996): Congenital malformations in newborns of women with established and gestational diabetes in Washington State, 1984-1991. Paediatr Perinat Epidemiol 10:52-63 (abstract).
13. Jellinger K, Gross H, Kaltenback E, Griswold W (1981): Holoprosencephaly and agenesis of the corpus callosum: Frequency of associated malformations. Acta Neuropathol (Berl) 55:1-10.
14. Leech RW, Shuman RW (1986): Holoprosencephaly and related midline cerebral anomalies: A review. J Child Neurol 1:3-18.
15. Loeser JD, Alvord EC (1968): Agenesis of the corpus callosum. Brain 91: 553-570.
16. Ming PL, Goodner DM, Park TS (1976): Cytogenetic variants in phenotype. Am J Dis Child 130:864-867.
17. Moore KL, Persaud TVN (1993): "The Developing Human," 5th ed. Philadelphia: W.B. Saunders Company.
18. Muenke M (1989): Clinical, cytogenetic, and molecular approaches to the genetic heterogeneity of holoprosencephaly. Am J Med Genet 34:237-245.
19. 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. Proc Natl Acad Sci USA 91:8102-8106.
20. 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 as a candidate gene for holoprosencephaly, and mapping of SIM2 to a region of chromosome 21 important for Down syndrome. Am J Hum Genet 57:1074-1079.
21. Müller F, O'Rahilly R (1989): Mediobasal prosencephalic defects, including holoprosencephaly and cyclopia, in relation to the development of the human forebrain. Am J Anat 18.5:391-414.
22. Olsen CL, Polan AK, Cross PK (1996): Case ascertainment for state-based defects registries: Characteristics of unreported infants ascertained through birth certificates and their impact on registry statistics in New York State. Paediatr Perinat Epidemiol 10:161-174.
23. O'Rahilly R, Müller F (1992): "Human Embryology and Teratology." New York: Wiley-Liss, pp. 3-79.
24. 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.
25. Reinis S, Goldman JM (1980): "The Development of the Brain. Biological and Funcitonal Perspectives." Springfield, IL: Charles C. Thomas.
26. Roach E, DeMyer W, Conneally PM, Palmer C, Merritt D (1975): Holoprosencephaly: Birth Data, Genetic and Demographic Analyses of 30 Families. BD:OAS XI(2):294-313.
27. Romero R, Pilu G, Jeanty P, Ghidini A, Hobbins JC (1988): Holoprosencephaly. In: "Prenatal Diagnosis of Congenital Anomalies." Norwalk: Appleton and Lange, pp 55-65.
28. Schell U, Wienberg J, Kohler A, Bray-Ward P, Ward DE, Wilson WG, Allen WP, Lebel RR, Sawyer JE, 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 HPE2 critical region in 2p21. Hum Mol Genet 5:223-229.
29. Sedano HO, Gorlin BJ (1963): The oral manifestations of cyclopia. Oral Surg 16:823-838.
30. Urioste M, Valcarcel E, Gomez MA, Pine I, Garcia de Leon R, de Bustamante AD, Tebar R, Martinez-Frias ML (1988): Holoprosencephaly and trisomy 21 in a child to a nondiabetic mother. Am J Med Genet 30: 925-928.