Read e-book online 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 booklet disguise the elemental rules of clinical genetics and contain many helpful diagrams. the remainder of the e-book is a photographic encyclopaedia of all of the identified genetic issues, grouped by means of platforms.

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C~- 99 98 100 and 101 Ectrodactyly, ectodermal dysplasia and eleCting (EEC) syndrome. Note: Repaired cleft lip, sparse, dry hair and split hand with partial syndactyly. Other features: Small or missing teeth. Inheritance: Autosomal dominant. 100 34 96-99 Nail patella syndrome. Note: Joint contractures and club feet, dystrophic nails with triangular lunules and iliac spurs (arrowed) in a neonate and adult. Other features: Hypoplastic patellae, ptosis, cloverleaf pigmentation of the iris and nephropathy.

110 and 111 Pena Shokeir syndrome. Note: Facial haemangioma, depressed nasal tip and hirsute forehead. Gross joint contractures. Other features: Polyhydramnios, pulmonary hypoplasia and neonatal death. Inheritance: Autosomal recessive. 36 112 111 112 Larsen syndrome. Note: Flat mid-face, depressed nasal tip, dislocation of knee and hip, positional deformities of the feet. Other features: Prominent forehead, hypertelorism, cleft palate, short spatulate thumbs, short metacarpals and double ossification centres of the calcaneus.

219 219 and 220 Russell-Silver syndrome. Note: Small triangular face, prominent forehead giving 'pseudo-hydrocephalus' appearance and thin lips with tendency to downturned corners. 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.

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


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