cornelia de lange syndrome: a case report
نویسندگان
چکیده
cornelia de lange syndrome (cdls) is a rare syndrome characterized by multiple congenital anomalies, mental retardation, characteristic facial appearance, developmental delay, skeletal malformation, hirsutism, and various cardiac and ophthalmological problems. the diagnosis of this syndrome is clinical. the patient of the present case report was the second case of cdls from iran ; only a few cases of cdls have thus far been reported from countries outside europe and north america. reporting cdls cases of different ethnic backgrounds can add nuances to the phenotypic description of the syndrome and be helpful in diagnosis. furthermore, an increased awareness of this syndrome may result in an early diagnosis and a decrease in morbidity.
منابع مشابه
Cornelia De-Lange Syndrome: A Case Report
Cornelia de Lange is a genetic syndrome which affects between 1/10.000 and 1/60.000 neonates, but its genetic bases are still not clear. Its principal clinical characteristics are the delay in growth and development, hirsute, structural anomalies in the limbs and distinctive facial characteristic. Dental problems are frequent and include: ogival palate, micrognathia, dental malalignment, delaye...
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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. The features of this disorder vary w...
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عنوان ژورنال:
the journal of tehran university heart centerجلد ۴، شماره ۴، صفحات ۲۴۴-۲۴۷
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