PERSPECTIVES ON HOLOPROSENCEPHALY .1. EPIDEMIOLOGY, GENETICS, AND SYNDROMOLOGY
PERSPECTIVES ON HOLOPROSENCEPHALY .1. EPIDEMIOLOGY, GENETICS, AND SYNDROMOLOGY
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DOI：
10.1002/tera.1420400304
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发表时间：
1989-09-01
期刊：
影响因子：
--
通讯作者：
COHEN, MM
中科院分区：
文献类型：
--
作者：
COHEN, MM
This paper provides an updated, comprehensive, critical review of the epidemiology, genetics, and syndromic aspects of holoprosencephaly and is divided into four parts. In the first part, epidemiologic aspects are discussed under the following headings: prevalence, temporal trends, socioeconomic status, exposure to environmental teratogens, maternal and paternal ages, pregnancy histories, and birth weights. The second part analyzes the facial phenotypes because the genetic and syndromic aspects of holoprosencephaly cannot be understood without knowledge of facial variability and its meaning. Topics discussed include cyclopia, ethmocephaly, cebocephaly, median cleft lip, and less severe facial dysmorphism. The third section, on genetics, analyzes associated anomalies, chromosomal and non-chromosomal holoprosencephaly, family studies, twin studies, genetics of nonsyndromic holoprosencephaly, and recurrence risks. The final section on syndromology summarizes 48 conditions in which some degree of holoprosencephaly may be a feature.
