3 . 2018

Clinical case: extreme-preterm baby with the Cornelia de Lange syndrome

Abstract

Cornelia de Lange syndrome (Brahmana de Lange syndrome, Amsterdam dwarfism, OMIM code 122470, 300590, 300882, 610759, 614701, International Statistical Classification of Diseases and Related Health Problems: Q87.1) is a rare genetically heterogeneous disease with autosomal dominant (NIPBL, SMC3 or RAD21) or X-linked (SMC1A and HDAC8) types of inheritance, characterized by specific facial dysmorphism, limb development abnormalities, development delay, gastrointestinal pathology, and heart and kidney inborn anomalies. Sometimes this syndrome associated with malformations of palate, loss of hearing, congenital diaphragmatic hernia. The prevalence ranges from 1:45 000 to 1:62 500 newborns. Most common cases (50-80% according to different authors) associated with mutation in NIPBL gene, located in the locus of chromosome 5p13.2. About 5% of Cornelia de Lange cases are associated with missense mutations in the SMC1A, SMC3, RAD21 and HDAC8 genes. All these genes play a key role in the functioning of a complex of proteins that regulate the processes of separation of chromatids in the course of cell division. The article presents a clinical case of extreme preterm baby with Cornelia de Lange syndrome (diagnosis was confirmed after whole-exome sequencing NGS). Also, we present review of literature data on genetics, pathogenesis, clinical manifestations, methods of diagnostic (including molecular genetic methods) and opportunities of symptomatic treatment.

Keywords: Cornelia de Lange syndrome, neonatal genetic, preterm baby, clinical case, molecular-genetic diagnostics, whole-exome sequencing NGS

Neonatology: News, Opinions, Training. 2018; 6 (3): 124-33. doi: 10.24411/2308-2402-2018-13007.

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CHIEF EDITOR

Degtyarev Dmitriy Nikolaevich

Doctor of Medical Sciences, Professor, Deputy Director for Scientific Research of the V.I. Kulakov Obstetrics, Gynecology and Perinatology National Medical Research Center of Ministry of Healthсаre of the Russian Federation, Head of the Chair of Neonatology at the Clinical Institute of Children's Health named after N.F. Filatov, I.M. Sechenov First Moscow State Medical University, Chairman of the Ethics Committee of the Russian Society of Neonatologists, Moscow, Russian Federation

ORCID iD 0000-0001-8975-2425

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