Get A Colour Atlas of Clinical Genetics PDF

By Michael Baraitser, Robin M. Winter

ISBN-10: 0723415471

ISBN-13: 9780723415473

The 1st 5 chapters of this e-book hide the fundamental ideas of clinical genetics and contain many beneficial diagrams. the remainder of the publication is a photographic encyclopaedia of all of the recognized genetic issues, grouped via structures.

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48 170 172 174 L 175 176 177 175-177 Apert syndrome. Note: Brachycephaly, acrocephaly, proptosis, beaked nose, mid-facial hypoplasia, antemongoloid slant to eyes, syndactyly of all fingers giving 'base-ball glove' appearance, big toes and thumbs are often free. Other features: Craniosynostosis, mental retardation, narrow or cleft palate and broad thumbs in valgus position. Inheritance: Autosomal dominant, most cases are fresh mutations. 178 179 178 and 179 Pfeiffer syndrome. Note: Acrocephaly, tall, prominent forehead, hypoplastic supra-orbital ridge, antemongoloid slant to eyes with hypertelorism, flat nasal bridge, broad great toes in valgus and syndactyly of toes 2-3 (in grandfather).

138 139 138and 139 Synpolydactyly. Note: Duplication of fourth fingers with partial syndactyly. Similar features in the father, in whom the most lateral finger has been removed on both hands. Other features: Synpolydactyly refers to the situation where syndactyly can occur in some individuals of a family without polydactyly, and not vice versa. Polysyndactyly refers to the opposite situation where polydactyly can occur without syndactyly. Inheritance: Autosomal dominant. 140 Post-axial polydactyly.

Inheritance: Autosomal recessive. 58 218 220 221 222 223 225 224 226 222-226 Aarskog syndrome. Note: Hypertelorism, anteverted nostrils, small nose, broad philtrum, maxillary hypoplasia, 'shawl' scrotum, lax joints, bulbous tips to digits and clinodactyly. Other features: Mild ptosis, short stature. Inheritance: X-linked recessive, carrier females sometimes show mild manifestations and especially short stature. 59 227 227 Seckel ('Bird-headed dwarf'). Note: Microcephaly, small face with prominent nose.

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


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