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Information × Registration Number 0217U000865, 0114U001549 , R & D reports Title Finding ways of early diagnosis of congenital malformations associated with undifferentiated connective tissue dysplasia popup.stage_title Head Hnateyko Oleh, Registration Date 16-03-2017 Organization Scientific-research institute of Hereditary pathology popup.description2 Of all the birth defects in infants more than 38% are birth defects associated with undifferentiated connective tissue dysplasia, where the fore socially significant - birth defects of cardiovascular and multiple birth defects. Clinical markers of birth defects associated with undifferentiated connective tissue dysplasia in infants are: hyperteloryzm, hypoteloryzm, abnormal shape of ears, epikant, mongoloid eye shape, micrognathia, makrognatiya, short bridle of tongue, dysplastic form the skull, short neck, cryptorchidism. Biochemical markers - determination in urine oxyproline. Among the anomalies of the gastrointestinal tract in children with undifferentiated connective tissue dysplasia often met gallbladder abnormalities - in 30.6% of patients. Children with birth defects urinary organs of phenotypic and clinical manifestations of undifferentiated connective tissue dysplasia decreased ability antykrystalic incontinence, lower urinary phosphate and urate excretion of oxalate and improvement of daily urine.In 44% of patients with refractive ophthalmic pathology found biochemical signs undifferentiated connective tissue dysplasia. Among 209 mothers of children with leukemia undifferentiated connective tissue dysplasia kidneys met 3.8% (p <0.05). The increase excretion of oxyproline were in women with infertility and reproductive disorders. Product Description popup.authors Іськів Мар'яна Юр'ївна Влох Марта Володимирівна Геник-Березовська Софія Олександрівна Гнатейко Олег Зіновійович Грузинцева Наталія Анатоліївна Дац-Опока Марта Ігорівна Кіцера Наталія Іванівна Косминіна Неля Станіславівна Лозинська Марія Ростиславівна Лук'яненко Наталія Сергіївна Лучак Марта Володимирівна Петріца Назар Андрійович Тенета Мар'яна Михайлівна Третяк Богдан Іринейович popup.nrat_date 2020-04-02 Close