Successful Growth Hormone Therapy in Cornelia de Lange Syndrome
نویسندگان
چکیده
منابع مشابه
Successful Growth Hormone Therapy in Cornelia de Lange Syndrome
Cornelia de Lange syndrome (CdLS) is a both clinically and genetically heterogeneous syndrome. In its classical form, it is characterised by distinctive facial features, intra-uterine growth retardation, short stature, developmental delay, and anomalies in multiple organ systems. NIPBL, SMC1A, SMC3, RAD21 and HDAC8, all involved in the cohesin pathway, have been identified to cause CdLS. Growth...
متن کاملCornelia 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 کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of Clinical Research in Pediatric Endocrinology
سال: 2017
ISSN: 1308-5727
DOI: 10.4274/jcrpe.4349