E Manor

Bio: E Manor is an academic researcher. The author has contributed to research in topics: Camptodactyly & Connective tissue. The author has an hindex of 2, co-authored 2 publications receiving 38 citations.

Camptodactyly: occurrence in two new genetic syndromes and its relationship to other syndromes.

Abstract: The term camptodactyly was coined by Landouzy (1906) to describe a form of contractures of the fingers. The aetiology of this defect is heterogeneous; it may be either genetic or occur as a sporadic event of unknown cause (Gordon, Davies, and Berman, 1969). It is further known that several independent heritable disorders are associated with camptodactyly (Welch and Temtamy, 1966). Recently we have studied two separate families each of which presented with camptodactyly. The main constellation of findings in addition to camptodactyly were identical in the affected members of each family, but one family differed markedly from the other. Since we have been unable to find previous reports describing these observations they seem to represent two new genetic syndromes. The purposes of this communication will be to give a detailed clinical account of each syndrome and to discuss the possible significance and relationship of camptodactyly in various genetically determined conditions.

A revised and extended classification of the distal arthrogryposes

Abstract: Since the group of disorders known as the distal arthrogryposes (DAs) were defined, additional disorders characterized by multiple congenital contractures of the distal limbs were described, and the distribution of phenotypic findings in the DAs has been expanded. The breadth of disorders labeled as DAs has diminished the usefulness of the DA classification. We propose a strict definition of DA and diagnostic criteria for DA disorders. Subsequently, we use these standards and propose a revised classification of discrete conditions that should be labeled DAs. Optimally, this serves as a framework for a DA classification based on underlying molecular and physiologic abnormalities.

Genetic Diseases of the Skin

Abstract: 1 Introduction to Human Genetics.- Molecular Genetics.- Biochemical Genetics.- Inheritance in Man.- The Human Chromosomes.- Genetic Heterogeneity.- Prevention and Treatment of Genetic Diseases.- 2 Abnormalities of Keratinization.- Acrokeratoses.- Erythrokeratodermias.- Follicular Keratoses.- Ichthyosiform Dermatoses.- Palmoplanar Keratodermias.- Porokeratoses.- Other Abnormalities of Keratinization.- 3 Abnormalities of Pigmentation.- Hypo- and Amelanosis.- Hypermelanosis.- 4 Bullous Eruptions.- Acrodermatitis Enteropathica.- Epidermolysis Bullosa.- Benign Familial Chronic Pemphigus.- 5 Hyperplasias, Aplasias, Dysplasias, and Atrophies.- Dermal Hypoplasias and Dysplasias.- Ear Malformations.- Syndactylies.- Ectodermal Dysplasias.- Syndromes with Premature Aging.- Poikilodermas.- Cutis Verticis Gyrata.- Other Disorders.- 6 Disorders with Photosensitivity.- Bloom Syndrome.- Hartnup Disease.- Hereditary Polymorphic Light Eruption...- Porphyrias.- Xeroderma Pigmentosum.- 7 Inherited Disorders with Immune Deficiency.- Antibody Deficiency Diseases.- Immunodeficiencies with Thymic Hypoplasia or.- Dysplasia.- Other Cellular Immunodeficiencies.- Disorders of the Phagocytic System.- Metabolic and Other Disorders.- Wiskott-Aldrich Syndrome (Aldrich Syndrome).- 8 Connective Tissue Disorders.- Cutis Laxa.- Ehlers-Danlos Syndrome.- Pseudoxanthoma Elasticum.- Marfan Syndrome.- Osteogenesis Imperfecta.- Puretic Syndrome.- Elastosis Perforans Serpiginosa.- Familial Reactive Collagenosis.- Mucopolysaccharidoses.- Heredity and Autoimmune Diseases.- 9 Disorders of Hair.- Hereditary Hirsutism.- Hereditary Alopecias.- Other Conditions.- Disorders of Eyelashes and Eyebrows.- 10 Disorders of Nails.- 11 Oral Mucosal Lesions.- Syndromes with Cleft Lip.- Lip Pits or Fistulas.- Gingival Fibromatosis.- Benign Intraepithelial Dyskeratosis.- Melkersson-Rosenthal Syndrome.- Mucosal Neuromas with Endocrine Tumors.- Tongue Abnormalities.- White Sponge Nevus.- 12 Proliferative Disorders.- Collagenoma and Connective Tissue Nevus.- Epidermal Proliferative Disorders.- Fibrous Proliferative Disorders.- Hemangiomas.- Lipomatoses.- Leiomyomas.- Mast Cell Disease.- Histiocytic Proliferative Disorders.- Malignant Lymphomas.- Melanocytic Proliferative Disorders.- 13 Vascular and Hematologic Disorders.- Anemias and Thrombocytopenias.- Telangiectasias.- Lymphedemas.- Raynaud Disease.- Cold Hypersensitivity.- Palmar Erythema.- Other Disorders.- 14 Neurocutaneous Syndromes.- Familial Dysautonomia.- Tuberous Sclerosis.- Neurofibromatosis.- Angiomatoses.- 15 Metabolic Disorders.- Aminoacidemias and Aminoacidurias.- Endocrinopathies.- Storage Diseases.- Other Metabolic Disorders.- 16 Chromosomal Anomalies.- Down Syndrome.- Turner Syndrome.- Other Syndromes with Chromosomal Anomalies.- 17 Dermatoglyphics.- Embryology.- Ridge Patterns.- Dermatoglyphics in Chromosomal Aberration.- Syndromes.- Dermatoglyphic Anomalies in Nonchromosomal Disorders.- 18 Cancer, Genetics, and the Skin.- Disorders with Autosomal Dominant Inheritance.- Disorders with Autosomal Recessive Inheritance.- Disorders with X-linked Recessive Inheritance.- Disorders with Possible Genetic Etiology-Mode of Inheritance Unknown.- 19 Miscellaneous.- Appendix: Differential Diagnoses of Disorders Based on Dermatologic Signs.

Camptodactyly, with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases: Tel Hashomer camptodactyly syndrome.

Abstract: A syndrome characterized by camptodactyly, distinct facial features, multiple musculoskeletal defects, and unique dermatoglyphic changes is described in two sisters born of consanguineous parents. In 1972 this same constellation of findings was first reported in two sibs from a different ethnic origin. This heritable disorder of connective tissue termed the Tel Hashomer camptodactyly syndrome is thought to be transmitted as an autosomal recessive trait. The basic defect is unknown.