Affiliation:
1. Saratov State Medical University
Abstract
Objective: on the clinical example of the alobar form of fetal and newborn holoprosencephaly, to consider the risk factors for the development of a congenital anomaly and the possibilities of a tactical solution. This clinical case focuses our attention on the complexity of early diagnosis of this congenital pathology, prevention and choosing the right solution to the problem. Differential diagnosis of the alobar form with seven-lobarand other types of holoprosencephaly was carried out. A clinical case of congenital alobar holoprosencephaly was diagnosed prenatally, with a gestation period of 17 weeks. Treatment of this syndrome is symptomatic, surgical correction of some defects is possible. Respiratory and cardiovascular insufficiency predetermine the fatal outcome of the disease. Medical and genetic counseling helps to clarify the risk of the appearance of sick offspring in the future.
Publisher
LLC Science and Innovations
Reference15 articles.
1. Badalyan LO, Ed. Hereditary diseases. Tashkent: Med., 1980; p. 51-5.
2. Barr М Jr, Cohen MM Jr. Autosomal recessive alobar holoprosencephaly with essentially normal facies. Am J Med Genet. 2002; (112): 28.
3. Bochkov NP. Hereditary diseases: National guidelines. Moscow: GEOTAR-Media, 2012; p. 128-45.
4. Aylamazyan EK, Baranov VS, eds. Prenatal diagnosis of hereditary and congenital diseases. Moscow: Triada-X, 2017; p. 11-148.
5. Barr М Jr, Cohen MM Jr. Holoprosencephaly survival and performance. Am J Med Genet. 1999; 89 (2): 116-20.