tailieunhanh - Differential Diagnosis in Neurology and Neurosurgery - part 2

Tâm thần chậm phát triển, dị tật Chiari, và tràn dịch não thường xuất hiện Brachycephaly, hypoplasia hàm trên, tai crus nổi bật, syndactyly, và thường Craniosynostosis chậm phát triển tâm thần, tai dysplastic, và aplasia xuyên tâm - hypoplasia. Quang teo, điếc dẫn điện | 22 Neuroradiology Carpenter s syndrome Brachycephaly lateral displacement of the inner can-thi brachydactyly of the hands syndactyly of the feet and hypogenitalism Kleeblattschadel syndrome Trilobular skull low-set ears and facial deformities. Dwarfism aqueductal stenosis and hydrocephalus may be seen Pfeiffer s syndrome Brachycephaly hypertelorism up-slanting palpebral fissures a narrow maxilla and broad thumbs and toes. Mental retardation Chiari malformation and hydrocephalus are often present Saethre-Chotzen syndrome Brachycephaly maxillary hypoplasia prominent ear crus syndactyly and often mental retardation Baller-Gerold syndrome Craniosynostosis dysplastic ears and radial aplasiahypoplasia. Opticatrophy conductive deafness and spina bifida occulta may be present Summitt s syndrome Herrmann-Opitz syndrome Craniosynostosis syndactyly and gynecomastia Craniosynostosis brachysyndactyly syndactyly of the hands and absent toes Herrmann-Pallister- Opitz syndrome Craniosynostosis microcrania cleft lip and palate symmetrically malformed limbs and radial aplasia Associated Congenital Syndromes Achondroplasia base of skull Asphyxiating thoracic dysplasia Hypophosphatasia late Mucopolysaccharidoses Hurler s syndrome mucolipidosis III fucosidosis Rubella syndrome Trisomy 21 or Down s syndrome Trisomy 18 syndrome Chromosomal syndromes 5 p- 7 q 13 Adrenogenital syndrome Fetal hydantoin syndrome Idiopathic hypercalcemia or Williams syndrome Meckel s syndrome Metaphyseal chondrodysplasia or Jansen syndrome Oculomandibulofacial or Hallermann-Streiff syndrome Tsementzis Differential Diagnosis in Neurology and Neurosurgery 2000 Thieme All rights reserved. Usage subject to terms and conditions of license. Macrocephaly or Macrocrania 23 Associated Disorders Rickets Hyperthyroidism Hypocalcemia Polycythemia Thalassemia Macrocephaly or Macrocrania Macrocephaly refers to large cranial vault. Thickened skull - Thalassemia or anemias with increased marrow activity - Rickets - .