No abstract available.
De Lange Syndrome*

No abstract available.
De Lange Syndrome*

No abstract available.
De Lange Syndrome*

No abstract available.
De Lange Syndrome*

Cornelia de Lange syndrome (CdLS) is a genetic syndrome with severe neurodevelopmental disorders as the main manifestation. Its clinical manifestations included mental retardation, typical facial features, intrauterine and postnatal developmental delay, and deformity in multiple organs and systems, with an incidence rate of about 1/10000 to 1/30000. International CdLS Consensus Group was established in 2017 and issued the first international consensus on CdLS, i.e., "Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement", in July 2018. Being developed through a modified Delphi consensus process, this consensus provides guidance on the diagnosis and management of children with CdLS. This article gives an interpretation of this consensus, aiming to help clinicians with early identification, diagnosis, standard follow-up, and management of this disease.
Consensus ; De Lange Syndrome ; Humans

De Lange Syndrome ; Humans ; Infant, Newborn ; Infant, Premature

Cornelia de Lange syndrome is a congenital disease, basically characterized by psychomotor retardation associated with a series of malformations, including mainly skeletal, craniofacial deformities together with gastrointestinal and cardiac malformations. There is no definitive biochemical or chromosomal marker for the prenatal diagnosis of this syndrome. We actually want to present the case of a 10-year-old patient, who was admitted to our clinic for dental pain. The patient had the symptoms of Cornelia de Lange syndrome. During the oral examination of this patient, the patient was found to have the typical symptoms of Cornelia de Lange syndrome, such as micrognathia and delayed eruption in conjunction with the symptoms of the Hutchinson's syndrome, which had never been reported before.
Child ; De Lange Syndrome/*pathology/*physiopathology ; Humans ; Male ; Tooth/*pathology

Cornelia de Lange syndrome (CdLS) is a relatively uncommon, multiple malformation syndrome involving neurodevelopmental, craniofacial, cardiac, musculoskeletal and gastrointestinal systems. Anesthetic management of a patient with CdLS may pose a serious problem mainly from difficult tracheal intubation, aspiration complications and cardiac malformation. We report our successful experience in anesthetic management of a 15-month-old male patient with CdLS who underwent orchiopexy for bilateral cryptochidism.
De Lange Syndrome ; Humans ; Infant ; Intubation ; Male ; Orchiopexy

Management of airway in a child with Cornelia de Lange Syndrome (CdLS) should be given due consideration because most of them have the problems related to difficult airway. The GlideScope video laryngoscope can be attempted during routine intubation, however it is mostly used in case of difficulty. With adequate preoperative airway assessment, we used the pediatric video laryngoscope as useful alternative airway device in a child with CdLS and orotracheal intubation proceeded uneventfully.
Airway Management ; Child ; De Lange Syndrome ; Humans ; Intubation ; Laryngoscopes

Child, Preschool ; De Lange Syndrome ; genetics ; Female ; Humans ; Mutation ; Proteins ; genetics