Cornelia de Lange syndrome: To diagnose or not to diagnose in utero?
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 کاملOral Features in Cornelia De Lange Syndrome
Cornelia de Lange syndrome (CdLS) is a multisystem malformation syndrome. There is wide clinical variability in this disorder. This disorder is relatively uncommon and characterised by series of malformations which includes skeletal, craniofacial, gastrointestinal and cardiac malformations. The main clinical feature includes growth retardation, limb abnormalities, mental retardation, developmen...
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ژورنال
عنوان ژورنال: Birth Defects Research
سال: 2017
ISSN: 2472-1727
DOI: 10.1002/bdr2.1045