The diagnosis of fetal malformations, especially those related to the central nervous system is extremely important in the practice of genetic counselling. Early diagnosis is mandatory, not only from the point of view of the prognosis, but also due to the emotional effects resulting from the accompanying craniofacial malformations. The summary of the obstetric and diagnostic characteristics should prove useful in the management of holoprosencephaly. Analysis of the 50 cases we encountered between 1981 and 2000, including the anatomical, diagnostic and clinical aspects, as well as the associated craniofacial malformations, form the essence of our publication. In one of the examined cases a familiar recurrence was detected and verified.
|Translated title of the contribution||Obstetric, prenatal diagnostic and phenotype characteristics of holoprosencephaly|
|Number of pages||8|
|Journal||Magyar Noorvosok Lapja|
|Publication status||Published - Mar 2 2004|
ASJC Scopus subject areas
- Reproductive Medicine
- Obstetrics and Gynaecology