Cornelia de Lange syndrome: from molecular diagnosis to therapeutic approach
نویسندگان
چکیده
منابع مشابه
Cornelia de Lange syndrome.
Cornelia de Lange syndrome (CdLS) is a rarely seen multisystem developmental disorder syndrome characterized by facial dysmorphia (arched eyebrows, synophrys, depressed nasal bridge, long philtrum, down-turned angles of the mouth), upper-extremity malformations, hirsutism, cardiac defects, growth and cognitive retardation, and gastrointestinal abnormalities. We present here a case of newborn ma...
متن کاملCornelia De Lange Syndrome and Cochlear Implantation
Introduction: Literature regarding the different degrees of hearing loss in patients with Cornelia de Lange syndrome (CDLS) reports that half of the affected patients exhibit severe to profound sensorineural hearing loss. We present the first pre-school child with CDLS who underwent cochlear implantation for congenital profound sensorineural hearing loss. Case Report: A 3-year-old boy with CD...
متن کاملClassical cornelia de lange syndrome.
SummaryThese two case reports illustrate the importance of doing a thorough dysmorphology examination for all so called "Multiple congenital anomalies" children and attempting to fit them into a recognized syndrome. Well over 2000 dysmorphic syndromes are now recognized and diagnosis of these children can be extremely difficult.
متن کاملGranulomatous rosacea in Cornelia de Lange syndrome.
It is true that mycological culture has a higher specificity, but it has lower sensitivity as compared to histopathology with periodic acid-Schiff staining (HP/ PAS).[1,2] HP/PAS is relatively quick, and a specificity of 72% cannot be overlooked.[3] In most cases, morphological aspect of the hyphae and/or spores can suggest the group to which pathogens belong.[3] In personal view of the authors...
متن کاملImmunologic features of Cornelia de Lange syndrome.
OBJECTIVES Cornelia de Lange syndrome (CdLS) is a genetic syndrome with multisystem abnormalities. Infections are a significant cause of morbidity and mortality. The goals of our study were to identify the frequency and types of infections in CdLS and to determine if underlying immunodeficiency contributes to the clinical spectrum of this syndrome. METHODS We assessed infectious histories in ...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2019
ISSN: 0022-2593,1468-6244
DOI: 10.1136/jmedgenet-2019-106277