Holoprosencephaly in an 8.5-week triploidy gestation

Clinical Dysmorphology

Volumn 18, Issue 3, 2009, Pages 166-167

  Solomon, Benjamin D ^a   Potocki, Lorraine ^b   Oyer, Calvin E ^c   Muenke, Maximilian ^a,d  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b TEXAS CHILDREN S HOSPITAL   (United States)

^c BROWN UNIVERSITY   (United States)

^d NATIONAL INSTITUTES OF HEALTH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

VISUAL PIGMENT;

ARTICLE; CHROMOSOME ANALYSIS; EMBRYO; EMBRYO DEVELOPMENT; FACE DYSMORPHIA; HOLOPROSENCEPHALY; HUMAN; HUMAN TISSUE; HYPOTELORISM; MICROCEPHALY; PREGNANCY; PRIORITY JOURNAL; PROBOSCIS; TRIPLOIDY;

FEMALE; HOLOPROSENCEPHALY; HUMANS; POLYPLOIDY; PREGNANCY; PREGNANCY TRIMESTER, FIRST;

EID: 67849118327     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/MCD.0b013e32832a9e90     Document Type: Article

References (10)

1. Edison RJ, Muenke M (2004). Central nervous system and limb anomalies in case reports of first-trimester statin exposure. N Engl J Med 350:1579-1582.
2. Hsu TY, Chang SY, Ou CY, Chen ZH, Tsai WL, Chang MS, Soong YK (2001). First trimester diagnosis of holoprosencephaly and cyclopia with triploidy by transvaginal three-dimensional ultrasonography. Eur J Obstet Gynecol Reprod Biol 96:235-237.
3. Kelley RL, Roessler E, Hennekam RC, Feldman GL, Kosaki K, Jones MC, et al. (1996). Holoprosencephaly in RSH/Smith-Lemli-Opitz syndrome: does abnormal cholesterol metabolism affect the function of Sonic Hedgehog? Am J Med Genet 66:478-484.
4. Leoncini E, Baranello G, Orioli IM, Annerén G, Bakker M, Bianchi F, et al. (2008). Frequency of holoprosencephaly in the International clearinghouse birth defects surveillance systems: searching for population variations. Birth Defects Res A Clin Mol Teratol 82:585-591.
5. Matsunaga E, Shiota K (1977). Holoprosencephaly in human embryos: epidemiologic studies of 150 cases. Teratology 16:261-272. (Pubitemid 8236371)
6. Muenke M, Beachy PA (2000). Holoprosencephaly. In: Scriver CR, Beaydet AL, Sly WS, Valle D, Childs B, Kinzler KW, Vogelstein B, editors. The metabolic and molecular basis of inherited disease. 8th ed. New York: McGraw-Hill; pp. 6203-6230.
7. Philipp T, Grillenberger K, Separovic ER, Philipp K, Kalousek DK (2004). Effects of triploidy on early human development. Prenat Diagn 24:276-281. (Pubitemid 38480661)
8. Plawner LL, Delgado MR, Miller VS, Levey EB, Kinsman SL, Barkovich AJ, et al. (2002). Neuroanatomy of holoprosencephaly as predictor of function: beyond the face predicting the brain. Neurology 59:1058-1066.
9. Wong HS, Tang MH, Yan KW, Cheung LW (1999). Histological findings in a case of alobar holoprosencephaly diagnosed at 10 weeks of pregnancy. Prenat Diagn 19:859-862.
10. Yamada S, Uwabe C, Fujii S, Shiota K (2004). Phenotypic variability in human embryonic holoprosencephaly in the Kyoto Collection. Birth Defects Res A Clin Mol Teratol 70:495-508. (Pubitemid 39167063)