سندرم Cornelia de Lange و معرفی یک مورد شیرخوار مبتلا
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Abstract:
Cornelia De Lange is a rare congenital syndrome with multiple anomalies including Facial dysmorphism, hirsutism, height, weight and head circumflex retardations, cardiac defects, gastrointestinal and renal defects and extremity anomaly. Prevalence of this syndrome is 1 to 30000 or 1 to 50000. The diagnosis of this syndrome is based on clinical evidence. Genetic foundation is known to have two forms including dominant autosomal and is X linked. Often mutations are NIPBL and SMC1L1. The aim of this paper is to show a case of Cornelia De Lange syndrome.
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سندرم cornelia de lange و معرفی یک مورد شیرخوار مبتلا
سندرم کورنلیا دلانژه (cornelia de lange) یک سندرم نادر مادرزادی همراه با ناهنجاری های متعدد از جمله ناهنجاری های صورت، رویش غیرعادی مو (hirsutism)، اختلال رشد قدی و وزنی و دور سر، نقایص قلبی، نقایص گوارشی، کلیوی و ناهنجاری اندام ها می باشد. شیوع بیماری 1 به 30000 تا 1 به 50000 می باشد. تشخیص این سندرم اساسا بر مبنای علایم بالینی است و اصولا بیماری به دو شکل اتوزوم غالب و وابسته به کروموزوم x می...
full textCornelia 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...
full textCornelia 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...
full textClassical 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.
full textGranulomatous 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...
full textImmunologic 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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Journal title
volume 17 issue 60
pages 116- 121
publication date 2007-10
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