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Cornelia de Lange syndrome
N. A. Solovyeva,
E. A. Kurmaeva,
G. A. Kulakova,
S. Ya. Volgina,
A. A. Rudnitskaya,
R. R. Samigullina,
N. M. Danilaeva https://doi.org/10.21508/1027-4065-2022-67-5-211-215
Abstract
The article presents the results of dynamic monitoring of a patient with Cornelia de Lange syndrome. The patient was born with archetypal facial features, multiple stigmas of dysembriogenesis, pre– and postnatal growth retardation and perinatal pathology of the brain in the form of spastic tetraparesis. Later, the child progressed with psychomotor development delay, hearing and vision disorders. Based on the conducted examination, consultations of specialists, including genetics, the diagnosis of «Cornelia de Lange syndrome» was established. To make this diagnosis, specific facial features in combination with additional criteria are sufficient.
About the Authors
N. A. Solovyeva
Kazan State Medical University
Russian Federation
Russian Federation
Kazan
E. A. Kurmaeva
Kazan State Medical University
Russian Federation
Russian Federation
Kazan
G. A. Kulakova
Kazan State Medical University
Russian Federation
Russian Federation
Kazan
S. Ya. Volgina
Kazan State Medical University
Russian Federation
Russian Federation
Kazan
A. A. Rudnitskaya
Children’s City Hospital No.8
Russian Federation
Russian Federation
Kazan
R. R. Samigullina
Children’s Polyclinic No. 4
Russian Federation
Russian Federation
Kazan
N. M. Danilaeva
Kazan State Medical University
Russian Federation
Russian Federation
Kazan
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For citations:
Solovyeva N.A., Kurmaeva E.A., Kulakova G.A., Volgina S.Ya., Rudnitskaya A.A., Samigullina R.R., Danilaeva N.M. Cornelia de Lange syndrome. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2022;67(5):211-215. (In Russ.) https://doi.org/10.21508/1027-4065-2022-67-5-211-215
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