I.E. IVANOVA¹, L.G. NOGTEVA², V.A. RODIONOV³, E.N. SAVASKINA², A.V. ABRUKOVA², E.N. IGNATYEVA⁴

¹Institute for Advanced Medical Studies of the Ministry of Healthcare of Chuvash Republic, 3 Krasnaya Square, Cheboksary, Russian Federation, 428032

²Presidential Prenatal Center of the Ministry of Healthcare of Chuvash Republic, 9 Moskovskiy Pr., Cheboksary, Russian Federation, 428018

³Chuvash State University named after I.N. Ulyanov, 15 Moskovskiy Pr., Cheboksary Russian Federation, 428015

⁴Republic Morbid Anatomy Bureau of the Ministry of Healthcare of Chuvash Republic, 24 Pirogov Str., Cheboksary, Russian Federation, 428017

Ivanova I.E. ― D. Med. Sc., Head of the Pediatrics Department, tel. (8352) 56-00-10, e-mail: ivanova_57@list.ru

Rodionov V.A. ― D. Med. Sc., Professor, Head of the Pediatrics and Pediatric Surgery Department, tel. (8352) 56-31-72, e-mail: vladimirodionov@yandex.ru

Nogteva L.G. ― Deputy Chief Doctor, tel. (8352) 58-61-62, e-mail: nogteva_l@mail.ru

Savaskina E.N. ― Head of the Medical-Genetic Counseling, тел. (8352) 58-05-85, e-mail: eksa@bk.ru

Abrukova A.V. ― Cand. Med. Sc., geneticist, tel. (8352) 58-05-85, e-mail: metra2009@yandex.ru

Ignatyeva E.N. ― Cand. Med. Sc., Head of Morbid Anatomy Department №2, tel. (8352) 23-54-57

The article presents a clinical case of generalized infantile calcification (GIC) in a newborn. The disease, the medical history, clinical and laboratory data of the patient are characterized. The following features were considered: GIC frequency, clinical and morphological manifestations, prognosis, possible prenatal, lifetime and genetic diagnostics. The article shows the spectrum of mutations in case of GIC, genetic prognosis for the birth of subsequent children in the family.

            Key words: generalized infantile calcification, the newborn, prenatal diagnosis, clinical picture, prognosis.

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