Handbook of Genetics and Congenital Defects

Introduction to genetics. Chromosome disorders. Single gene disorders. Management and counselling. Dysmorphic features. Short stature and microcephaly: Down syndrome; Edwards syndrome; Patau syndrome; Cri-du-chat (cat cry) syndrome; Pena-Shoker syndrome; Cerebro-oculo-facial-skeletal (COFS) syndrome; Rubinstein-Taybi syndrome; Seckel syndrome; Brachman-De Lange syndrome; Foetal alcohol syndrome; Foetal rubella syndrome. Short stature: Williams syndrome; Russell-Silver syndrome; Aarskog syndrome. Unusual faces and syndactyly: Apert syndrome; Carpenter syndrome. Unusual faces with craniosynostosis (slides 106-112): Pfeiffer syndrome; Crouzon syndrome. Webbing of the neck (slides 113-122): Turner syndrome; Noonan syndrome; Escobar (multiple pterygium) syndrome; XXXX syndrome; Short stature and short limbs (slides 123-127); Achondroplasia; Hypochondroplasia. Short limbs and small thorax (slides 128-129): Thanatophoric dysplasia; Jeune thoracic dystrophy. Short limbs and polydactyly (slides 130-135): Chondroectodermal dyslasia (Ellis-Van Creveld syndrome); Grebe syndrome. Short stature, short trunk, and abnormal limbs (slides 136-139): Pseudoachondroplasia; Spondylo-epiphyseal and/or spondylometaphyseal dysplasias; Skeletal disorders (slides 140-160); Osteogenesis imperfecta (brittle bones); Larsen syndrome; Conradi-Hunermann syndrome; Cleidocranial dysostosis; Marfan syndrome; Beal syndrome; Femoral hypoplasia - unusual facies syndrome; Radial hypoplasia or aplasia; Arthrogryposis; Arthrogryposis (1A); Trismus-pseudocamptodactyly syndrome (Hecht); Limb defects (slides 161-165); Early amnion rupture sequence; Amelia and hypomelia; Bleeding disorder (slides 166-167); Haemophilia. Coarse features and/or enlarged liver caused by enzyme disorders (slides 168-173).