Spot Diagnosis

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.
Question :
Spot Diagnosis

What is the diagnosis?

Discussion :
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

Correct Answers : yes  14%

Last Shown : Mar 2009
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