Download A Colour Atlas of Clinical Genetics by Michael Baraitser, Robin M. Winter PDF

By Michael Baraitser, Robin M. Winter

The 1st 5 chapters of this publication disguise the fundamental rules of scientific genetics and comprise many helpful diagrams. the remainder of the e-book is a photographic encyclopaedia of all of the recognized genetic problems, grouped by way of structures.

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Asymmetry of limbs with proportionate short stature. Other features: C1inodactyly, cafe au lait spots, prenatal growth deficiency and generally normal intelligence. Inheritance: Usually sporadic. 221 Leprechaunism (Donahue syndrome). Note: Emaciated appearance, hirsutism, thickish lips, wide nostrils and large clitoris. Other features: Prominent eyes, mental retardation, low birth-weight, failure to thrive and hyperinsulinism. Inheritance: Autosomal recessive. 58 218 220 221 222 223 225 224 226 222-226 Aarskog syndrome.

Other features: Short stature. Other syndromes such as pseudohypoparathyroidism and pseudopseudohypoparathyroidism should be excluded. Inheritance: Autosomal dominant. 144 144-151 Cornelia deLange syndrome. Note: Low birth weight, short stature, microcephaly, generalized hirsutism, synophrys, long eyelashes, anteverted nostrils, long philtrum, thin upper lip, micrognathia and downturned angles of mouth. Malformation of limbs in 20-30%. Other features: Mental retardation, hoarse cry. Inheritance: Usually sporadic.

Other features: Contractures of fingers and other joints, cleft palate, congenital heart disease and mental retardation. Inheritance: Autosomal recessive. 52 194 197 196 195 198 197and 198 Happypuppetsyndrome(Angelman). Note: Deep-set eyes, prominent jaw, happy appearance and characteristic posture of arms. Other features: Hypotonia, mental retardation, optic atrophy or choroidal dystrophy and seizures. Characteristic jerky movements are reminiscent of a string puppet. Inheritance: Most cases sporadic.

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