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Cornelia de Lange syndrome
M Kuila.
Department of Pediatrics, Chittaranjan Sishu Sadan and Medical College, Kolkata.
ADDRESS FOR CORRESPONDENCE
Dr. M. Kuila, 66,Braunfeld row, Mominpur, Kolkata-27.
Email: drmadhumita_k@rediffmail.com
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What is the diagnosis?
Brachmann de Lange syndrome {BDLS}, also known as Cornelia de Lange syndrome is a multiple congenital anomaly syndrome characterized by a distinctive facial appearance, prenatal and postnatal growth deficiency, psychomotor delay, behavioral problems and malformation of upper extremities, genito urinary abnormalities, cardiac septal defect, pyloric stenosis, congenital diaphragmatic hernia, autism, hearing loss. It is a dominantly inherited disorder. The prevalence of the syndrome is estimated as 1 in 10,000. Facial features including low front and back hairlines, synophrys, hirsutism, microcephaly, long cwebsitey eyelashes turned-up nose, down-turned angles of the mouth and thin lips, long philtrum, small lower jaw and protruding upper jaw, excessive body hair, short neck.
E-published: April 2009, Vol 6 Issue 4, Art # 21 |