By Michael Baraitser, Robin M. Winter
The 1st 5 chapters of this publication disguise the fundamental ideas of clinical genetics and comprise many helpful diagrams. the remainder of the e-book is a photographic encyclopaedia of all of the identified genetic issues, grouped by way of platforms.
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Extra info for A Colour Atlas of Clinical Genetics
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. Empiric recurrence risk 2-3%. 43 146 147 148 149 150 151 152 152 Halterman-Streiff syndrome. Note: Brachycephaly with frontal and parietal bossing, microphthalmos, malar hypoplasia, thin, pointed nose with atrophic skin and microstomia.
Intelligence - usually normal. Inheritance: Probably autosomal dominant. N. B. This syndrome shows overlapping features with the Opitz BBB syndrome in which swallowing difficulties are not encountered. 50 185 Moebius syndrome. Note: Bilateral facial weakness and bilateral abducens palsy. Other features: Limb anomalies, including brachydactyly-syndactyly. Mental retardation, atrophy of tongue and swallowing difficulties. Inheritance: Mostly sporadic, 2% recurrence risk. 186 186 Johanson-Blizzard syndrome.
Shortening and bowing of the legs. Shortening and angulation of the femurs. Other features: Mid-line cleft palate. Inheritance: Usually sporadic, but one dominant pedigree has been described. Maternal diabetes should be excluded. 193 193-196 Marden-Walker syndrome. Note: Short palpebral fissures, expressionless face, depressed nasal bridge, anteverted nostrils and low-set ears. Other features: Contractures of fingers and other joints, cleft palate, congenital heart disease and mental retardation.