Publications by authors named "Diana N Mehta"

Cornelia de-Lange syndrome is a congenital anomaly syndrome characterized by distinctive facial dysmorphism, primordial short stature, hirsutism, and upper limb reduction defects that range from subtle phalangeal abnormalities to oligodactyly. Craniofacial features include synophrys, arched eyebrows, long eyelashes, small widely spaced teeth and microcephaly. IQ ranges from between 30 and 102 with an average of 53.

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Glanzmann's thrombasthenia, is one of the rarest congenital, genetically inherited platelet disorder. It has an incidence of about 1:1,000,000, but is more common in populations with increased consanguinity. Glanzmann's thrombasthenia is characterized by deficiency or dysfunction of glycoprotein (GP) lib and Ilia, which are the receptors of fibrinogen.

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