title: Fetopathological aspects of holoprosencephaly.
abstract: Holoprosencephaly (HPE) is a congenital central nervous system malformation estimated to occur in 1/250 conceptuses and 1/10,000 live births. While the severe forms, which are incompatible with life, are easier to detect in the prenatal period, the milder forms can remain unrecognised. As this can have serious consequences for the pregnancy and malformation carriers it is of crucial importance to find ways of timely detection of this pathological condition. The present study AIMED at finding an association of holoprosencephaly with facial dysmorphia and anomalies of visceral organs that would alert the physician to be very careful in making the prenatal diagnosis, which may require termination of pregnancy by medical indications.
  
  
  METHODS
  The study included 15 fetuses diagnosed with holoprosencephaly out of 2095 cases analysed post-mortem in the Fetopathology Clinic at the Centre for Maternity and Neonatology in the town of Tunisia over a period of 3 years (Oct. 2006 - Oct. 2009). The fetuses were analysed macro- and microscopically.
  
  
  RESULTS
  All forms of holoprosencephaly include elements of facial dysmorphism with the facial phenotypes of cyclopia, cebocephaly and ethmocephaly. It can be associated with specific internal organs anomalies, the hydrocephaly being the most common anomaly of the central nervous system. Our study suggested that holoprosencephaly can be correlated with craniofacial anomalies affecting the midfacial and medium craniovisceral structures.
  
  
  CONCLUSIONS
  The anatomical variations of HPE and the phenotypic facial correlations require a systematic and targeted study of central nervous system.
authors.affiliation: Department of Anatomy, Histology and Embryology, Medical University, Plovdiv, Bulgaria. tanyakitova@yahoo.com
authors.forename: Tanya T
authors.initials: TT
authors.lastname: Kitova
authors.forename: Masmoudi
authors.initials: M
authors.lastname: Aida
authors.forename: Zghall
authors.initials: Z
authors.lastname: Dorra
authors.forename: Chelli
authors.initials: C
authors.lastname: Dalenda
authors.forename: Soumeya Siala
authors.initials: SS
authors.lastname: Gaigi
mesh_terms: D001921:Brain / Q000473:pathology; D005260:Female; D005333:Fetus / Q000473:pathology*; D016142:Holoprosencephaly / Q000473:pathology*; D006801:Humans; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis