Volume 2

Principles and practice of medical genetics / editors, Alan E.H. Emery, David L. Rimoin ; assistant editor, Jeffrey A. Sofaer ; editorial assistant, A.P. Garber ; foreword by Victor A. McKusick.

Date:
1983
Catalogue details

Licence: Attribution-NonCommercial 4.0 International (CC BY-NC 4.0)

Credit: Principles and practice of medical genetics / editors, Alan E.H. Emery, David L. Rimoin ; assistant editor, Jeffrey A. Sofaer ; editorial assistant, A.P. Garber ; foreword by Victor A. McKusick. Source: Wellcome Collection.

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    ossification in achondroplastic dwarfism. New England Journal of Medicine 283: 728 4. Scott C I 1976 Achondroplastic and hypochondroplastic dwarfism. Clinical Orthopaedics 114: 18 11. Diastrophic Dysplasia 1. Hollister D W, Lachman R S 1976 Diastrophic dwarfism. Clinical Orthopaedics 114: 61-69 2. Horton W A, Rimoin D L, Lachman R S, Skovby F, Hollister D W, Spranger J, Scott C I, Hall J G 1978 The phenotypic variability of diastrophic dysplasia. Journal of Pediatrics 93: 609-613 3. Lamy M, Maroteaux P 1960 La nanisme diastrophique. Presse Medicale 68: 1977-1980 4. Walker B A, Scott C I, Hall J G, Murdoch J L, McKusick V A 1972 Diastrophic dwarfism. Medicine 51: 1 12. Metatropic Dysplasia (several forms) 1. Jenkins P, Smith M D, McKinnell J S 1970 Metatropic dwarfism. British Journal of Radiology 43: 561-565 2. Maroteaux P, Spranger J, Wiedemann H R 1966 Der Metatropische Zwergwuchs. Archiv fiir Kinderheilkunde 173: 211-226 3. Rimoin D L, Siggers D C, Lachman R S, Silberberg R 1976 Metatropic dwarfism, the Kniest syndrome and the pseudoachondroplastic dvsplasias. Clinical Orthopedics 114: 70 4. Gefferth K 1973 Metatropic dwarfism. Progress in Pediatric Radiology 4: 137-151 13. Chondroectodermal Dysplasia (Ellis-van Creveld) 1. Jequier S, Dunbar J S 1973 The Ellis-van Creveld syndrome. Progress in Pediatric Radiology 4: 167-183 2. Kozlowski K, Szmigiel C, Barylak A, Stropyrowa M 1972 Difficulties in differentiation between chondroectodermal dysplasia (Ellis-van Creveld syndrome) and asphyxiating thoracic dystrophy. Australasian Radiology 16: 401-410 3. McKusick V A, Egeland J A, Eldridge R, Krusen D R 1964 Dwarfism in the Amish. I. The Ellis-van Creveld syndrome. Bulletin of the Johns Hopkins Hospital 115: 306 4. Blackburn M G, Belliveau R E 1971 Ellis-van Creveld svndrome. American Journal of Diseases of Children 122: 267-270 14. Asphyxiating Thoracic Dysplasia (Jeune) 1. Herdman R C, Langer L O 1968 The thoracic asphyxiant dystrophy and renal disease. American Journal of Diseases in Children 116: 192-201 2. Langer L O Jr 1968 Thoracic-pelvic-phalangeal dystrophy: asphyxiating thoracic dystrophy of the newborn, infantile thoracic dystrophy. Radiology 91: 447-546 3. Maroteaux P, Savart P 1964 La dystrophie thoracique asphyxiant; etude radiologique et rapports avec le syndrome d’Ellis et van Creveld. Annales Radiology 7: 332 4. Oberklaid F, Danks D M, Moyne V, Campbell B 1977 Asphyxiating thoracic dysplasia: clinical, radiological and pathological information on 10 patients. Archives of Disease in Childhood 52: 758 5. Koxlowski K, Szmigiel C, Barylak A 1972 Difficulties in differentiation between chondroectodermal dysplasia (Ellis-van Creveld syndrome) and asphyxiating thoracic dystrophy. Australasian Radiology 16: 401-410 6. Cortina J, Beltran J, Olague R, Ceres L, Alonson A, Lanuza A 1979 The wide spectrum of the asphyxiating thoracic dysplasia. Pediatric Radiology 8: 93-99 15. Spondyloepiphyseal Dysplasia Congenita a. Type Spranger-Wiedemann 1. Bach C, Maroteaux P, Schaefer P, Bitan A, Crumiere C 1967 Dysplasia spondylo-epiphysaire congenitale avec anomalies multiples. Archives Françaises Pédiatrie 24: 24-33 2. Spranger J W, Langer L O Jr 1970 Spondyloepiphyseal dysplasia congenita. Radiology 94: 313-322 3. Spranger J, Wiedemann H R 1966 Dysplasia spondvloepiphvsaria congenita. Helvetica Pediatrica Acta 6: 598-611 4. Kozlowski K, Bittel-Dobrzynska N, Budzynska A 1967 Spondvloepiphvseal dvsplasia congenita. Annals of Radiology 11: 367-375 b. Other Forms (see B 11 and 12) 1. Maroteaux P, Wiedemann H R, Spranger J, Kozlowski K, Lenzi L 1968 Essai de classification des dysplasies spondyloepiphysaires. Monographies de Genetique Medicale. Lyon, France 2. Spranger J, Langer L O 1974 Spondyloepiphyseal dysplasias. In: Skeletal Dysplasias. Birth Defects Original Articles Series X(9): 19 16. Kniest Dysplasia 1. Maroteaux P, Spranger J 1973 La maladie de Kniest. Archives Françaises Pédiatrie 30: 735 2. Siggers D, Rimoin D L, Dorst J P, Doty S, Williams B, Hollister D W, Silberberg R, Cranley R, Kaufman R, McKusick V A 1974 The Kniest syndrome. In: skeletal dysplasias. Birth Defects Original Article Series X(9): 193 3. Lachman R S, Rimoin D L, Hollister D W, Dorst J P, Siggers D C, McAlister W, Kaufman R L, Langer L O 1975 The Kniest syndrome. Radiology 123: 805 17. Mesomelic Dysplasia 1. Kaitila II, Leisti J T, Rimoin D L 1976 Mesomelic skeletal dysplasias. Clinical Orthopedics 114: 94-106 a. Type Nievergelt 1. Nievergelt K 1944 Positiver Vaterschaftorachivers auf Grund Erblicher Missbildunger der Extremitäten. Arch Klaus-Stift Vererb Forsch 19: 157 2. Solonen K A, Sulamaa M 1958 Nievergelt syndrome and its treatment; a case report. Ann Chir Gvnaecol Fenn 47: 142-147 b. Type Langer (probably Homozygous Dyschondrosteosis) 1. Langer L O Jr 1967 Mesomelic dwarfism of the hypoplastic ulna, fibula mandible tvpe. Radiology 89: 654-660 2. Espiritu C, Chen H, Wooley P V 1975 Mesomelic dwarfism as the homozygous expression of dyschondrosteosis. American Journal of diseases of Children 129: 375 3. Silverman F N 1973 Mesomelic dwarfism. Progress in Pediatrics and Radiology 4: 546-562 c. Type Robinow 1. Kelly T E, Benson R, Temtamy S A, Plotnick L, Levin S 1975 The Robinow syndrome: an isolated case with a detailed study of the phenotype. American Journal of Diseases in Children 129: 383-386 2. Robinow M, Silverman F N, Smith H D 1969 A newly recognized dwarfing syndrome. American Journal of Diseases of Children 117: 645-651 d. Type Reinhardt 1. Reinhardt K, Pfeiffer R A 1967 Ulno-fibulare Dysplasie. Eine autosomal-dominant vererbte Mikromesomelie ähnlich dem Nievergelts syndrom. Fortschritte anf dem Gebiete der Rontgenstrahlen und der Nuklear Medizin 107: 379 18. Acromesomelic Dysplasias 1. Campailla E, Martinelli B 1971 Deficit staturale con micromesomelia. Presentazione di due casi familiari.