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New PDF release: A Colour Atlas of Clinical Genetics

By Michael Baraitser, Robin M. Winter

ISBN-10: 0723415471

ISBN-13: 9780723415473

The 1st 5 chapters of this booklet conceal the elemental rules of scientific genetics and contain many helpful diagrams. the remainder of the ebook is a photographic encyclopaedia of all of the identified genetic issues, grouped via platforms.

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Note: Bulbous, pear-shaped nose, prominent philtrum, protruding ears and hypoplastic nares. Abnormal angulation of phalanges with broadening of the middle phalangeal joint. Other features: Mild growth deficiency, sparse thin hair. X-ray changes consisting of cone-shaped epiphyses in the hands. Inheritance: Autosomal recessive and dominant forms. 155 156 155 and 156 Langer-Giedion syndrome. Note: Features similar to tricho-rhino-phalangeal syndrome. Other features: Features which distinguish the two syndromes include microcephaly, mental retardation, multiple exostoses, loose and redundant skin at birth all of which occur in the LangerGiedion syndrome.

35 106 107 109 108 110 106-109 Neu-Laxova syndrome. Note: Microcephaly, prominent nasal bridge, small chin, joint contractures, subcutaneous oedema, 'collodion' skin, rocker bottom feet and oedema of hands and feet. Other features: Neonatal death, agenesis of the corpus callosum. Some infants with this condition have bizarre facial features with absent eyelids and nose. The hands and feet can be grossly swollen. Inheritance: Autosomal recessive. 110 and 111 Pena Shokeir syndrome. Note: Facial haemangioma, depressed nasal tip and hirsute forehead.

Inheritance: Autosomal dominant. 101 102 103 104 102-104 Oculo-dento-digital syndrome. Note: Thin hypoplastic alae with small pinched nose, small eyes, irregular teeth and fine sparse hair. Syndactyly of 3rd, 4th and 5th fingers with camptodactyly. Other features: Enamel hypoplasia, normal intelligence. Inheritance: Autosomal dominant. 105 105 Cerebro-ocular-facio-skeletal syndrome (COFS). Note: Microcephaly, prominent nasal bridge. Other features: Joint contractures, microphthalmia, cataracts, severe progressive mental retardation and cachexia.

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


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