By Robert J. Gorlin D.D.S M.S. D.Sc., M. Michael Cohen Jr. D.M.D. Ph.D., Raoul C.M. Hennekam M.D. Ph.D.
This vintage textual content, one of many actual anchors of our scientific genetics publishing application, covers over seven-hundred assorted genetic syndromes concerning the pinnacle and neck, and it has verified itself because the definitive, accomplished paintings at the topic. The dialogue covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and scientific profile of every situation, all of that's observed through a wealth of illustrations. The authors are well-known leaders within the box, and their tremendous wisdom and robust scientific judgment can help readers make experience of this complicated and burgeoning box. Dr. Gorlin retires as editor during this version and co-editor Raoul Hennekam takes over. Dr. Hennekam is considered one of many best dysmorphologists--and certainly one of many best scientific geneticists--in the area. Judith Allanson is new to the ebook yet is a veteran OUP writer and a extensively revered geneticist, and Ian Krantz at Penn is a emerging megastar within the box. Dr. Gorlin's identify has constantly been heavily linked to the booklet, and it has now develop into a part of the identify. As in all fields of genetics, there was an explosion within the genetics of dysmorphology syndromes, and the writer has undertaken a whole updating of all chapters in gentle of the discoveries of the Human Genome undertaking and different ongoing advances, with a few chapters requiring whole rewriting. extra fabric has been further either when it comes to new syndromes and in updating details on latest syndromes. The ebook will attract medical geneticists, pediatricians, neurologists, head and neck surgeons, otolarynologists, and dentists. The 4th variation, which released in 2001, has bought 2,600 copies.
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Additional info for Syndromes of the Head and Neck (Oxford Monographs on Medical Genetics, No. 42)
Sample text
2-p12 Syndrome), 1069 Craniofacial Findings, 1069 Central Nervous System, 1069 Skeletal Findings, 1070 Discussion, 1070 Speech Delay, Facial Asymmetry, and Strabismus, 1070 Unusual Facies, Agonadism, and Mental Retardation, 1070 Unusual Facies and Congenital Hip Dislocation, 1071 Unusual Facies, Hyperphalangism, Hallux Valgus, and Bronchomalacia, 1071 Unusual Facies, Hirsutism, Skeletal Dysplasia, Mental Retardation, and Uric Acid Metabolic Disorder, 1071 Unusual Facies, Short Stature, Myopia, and Mental Retardation, 1071 Unusual Facies, Hypertrichosis, and Retinopathy, 1071 Unusual Facies, Hypotonia, Mental Retardation, and Radioulnar Synostosis, 1072 Unusual Facies, Abnormal Hair, Camptodactyly, and Caudal Appendage (Teebi-Shaltout Syndrome), 1072 Unusual Facies, Elevated IgE Level, and Leukocyte Dysfunction (Job Syndrome, Hyperimmunoglobulin E Syndrome), 1074 Unusual Facies, Microcephaly, Normal Intelligence, Immunodeficiency, and Lymphoreticular Malignancy, 1074 Unusual Facies and Familial Intestinal Malrotation, 1075 Unusual Facies, Cerebellar Hypoplasia, and Heart and Lung Abnormalities, 1075 Unusual Facies, Congenital Hypothyroidism, and Severe Mental Retardation (Young-Simpson Syndrome), 1075 Digital Fibromas, Metacarpal and Metatarsal Disorganization, and Facial Pigmentary Dysplasia (Digito-Cutaneous Dysplasia, Terminal Osseous Dysplasia, and Pigmentary Defects), 1075 Contents Unusual Facies, Arachnodactyly, Hypogenitalism, and Failure to Thrive, 1076 Unusual Facies, Hypopituitarism, Distal Arthrogryposis, and Mental Retardation, 1077 Unusual Facies and Microcephaly with Normal Intelligence, 1077 Unusual Facies and Partial Alopecia, 1078 Unusual Facies, Hooked Clavicles, Supernumerary Ribs, Widened Metaphyses, and Square-Shaped Vertebral Bodies, 1078 Unusual Facies, Lipodystrophy, and Joint Contractures (Werner-like Syndrome), 1078 Unusual Facies, Lymphedema, Intestinal Lymphangiectasia, and Mental Retardation (Hennekam Syndrome), 1078 Unusual Facies, Ectodermal Dysplasia, and Polycystic Brain (Dilated Virchow-Robin Spaces)(Sener Syndrome), 1079 Unusual Facies, Mental Retardation, and Intrauterine and Postnatal Growth Retardation (Pitt-Rogers-Danks Syndrome, Microdeletion 4p16), 1079 Unusual Facies, Macrocephaly, Aplasia of Corpus Callosum, Seizures, Hypertrichosis, Claw Hands, and Overlapping Fingers, 1080 Unusual Facies, Microcephaly, Abnormal Gyri, Contractural Arachnodactyly, and Glomerulopathy (Galloway-Mowat Syndrome), 1081 Unusual Facies, Microcephaly, and Large Ears (Lambotte Syndrome), 1081 Multicentric Osteolysis with Arthritis, Short Stature, and Unusual Facies, 1081 Unusual Facies, Mental Retardation, Early Balding, Patellar Subluxation, Acromicria, and Hypogonadism, 1081 Unusual Facies, Microcephaly, Syndactyly, and Growth and Mental Retardation (Filippi Syndrome, Craniodigital Syndrome of Filippi), 1082 Unusual Facies, Short Stature, Enamel Hypoplasia, Stiff Joints, and High-Pitched Voice, 1082 Unusual Facies, Short Webbed Neck, Mental Retardation, and Short Stature, 1082 Unusual Facies, Arachnodactyly, and Mental Retardation, 1083 Unusual Facies, Preauricular Pits, Fifth Finger Clinodactyly, and Tetralogy of Fallot (Jones-Waldman Syndrome), 1083 Unusual Facies, Uncombable Hair, Mental Retardation, Postaxial Polydactyly, Phalangeal Hypoplasia, and 2–3 Toe Syndactyly, 1083 Unusual Facies, Trigonobrachycephaly, and Hand and Foot Anomalies, 1084 Unusual Facies, Osteochondrodysplasia, and Short Stature, Brussels Type, 1084 Unusual Facies, Multiple Pterygia, Hypogonadism, and Somatic and Mental Retardation (Haspeslagh Syndrome), 1084 Floating-Harbor Syndrome (Unusual Facies, Short Stature, Delayed Bone Age, and Hypoplastic Penis), 1084 Unusual Facies, Renal and M¨ullerian Hypoplasia, and Severe Somatic and Mental Retardation, 1085 Unusual Facies, Vitiligo, Canities, and Progressive Spastic Paraplegia, 1085 Unusual Facies-Serpentine Fibula-Polycystic Kidney Syndrome (ter Haar Syndrome), 1086 xli Unusual Facies, Microcephaly, Polycystic Kidneys, Brachymelia, Potter Sequence, and Congenital Heart Anomalies (Gillessen-Kaesbach Syndrome), 1086 Unusual Facies, Musculoskeletal Abnormalities, and Sensory Defects, 1088 Unusual Facies, Polysyndactyly of Fingers and Toes, and Congenital Heart Disease, 1088 Unusual Facies, Oligodontia, and Precocious Choroid Calcifications, 1089 Unusual Facies, Myelodysplasia, and Immunodeficiency, 1089 Unusual Facies, Retinal Pigment Abnormalities, Short Stature, Radioulnar Synostosis, and Mental Retardation, 1089 Unusual Facies, M¨ullerian Hypoplasia, and Limb Anomalies (Al-Awadi–Raas-Rothschild Syndrome), 1090 Unusual Facies, Hepatic Fibrosis, Renal Cysts, and Mental Retardation, 1090 Unusual Facies, Sparse Hair, and Mental Retardation, 1091 Unusual Facies, Broad Webbed Neck, Inverted Nipples, Epilepsy, and Pachygyria of Frontal Lobes, 1091 26.
Approximately 30% of deformed infants have two or more deformations. Deformed infants tend to show catch-up growth toward their genetic potential during the first few postnatal months after release from the intrauterine constraining environment (8). Table 1–1 indicates some of the known causes, both extrinsic and intrinsic, of deformations. Deformations considered here include nasal, auricular, and mandibular deformities, torticollis, nonsynostotic plagiocephaly, craniosynostosis caused by intrauterine constraint, and abnormal fetal presentations, which may result in craniofacial deformation.
The naris on the side toward the dislocated cartilaginous septum will appear small (9). a From MM Cohen Jr, The Child with Multiple Birth Defects, 2nd ed, Oxford University Press, New York, 1997. Auricular deformation. Overfolding of the superior rim of the helix tilted head position in utero, the lower auricle may be lifted by pressure from the shoulder (2). and other alterations in the cartilaginous auricle are frequently caused by fetal constraint. The ear may be flattened against the head by oligohydramnios, and prolonged pressure against the auricle may result in overgrowth.