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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    Minerva Ortopedica 22: 180 2. Maroteaux P, Martinelli B, Campailla E 1971 Le nanisme acromesomelique. Press Medicale 79: 1839 3. Langer L O, Beals R K, Solomon I L, Bard P A, Baard L A, Rissman E M, Rogers J G, Dorst J P, Hall J G, Sparkes R S, Franken E A 1977 Acromesomelic dwarfism: manifestations in childhood. American Journal of Medical Genetics 1: 87-100 4. Langer L O, Garrett R T 1980 Acromesomelic dysplasia. Radiology 137: 349-355 19. Cleidocranial Dysplasia 1. Faure C, Maroteaux P 1973 Cleidocranial dysplasia. Progress in Pediatrics and Radiology 4: 211 2. Forland M 1962 Cleidocranial Dysostosis. A review of the syndrome. American Journal of Medicine 33: 792 3. Keats T E 1967 Cleidocranial dysostosis: some atypical roentgen manifestations. American Journal of Roentgenologv, Radium therapv and Nuclear Medicine 100: 71-74 4. Hawkins H B, Shapiro R, Petrillo C J 1975 The Association of cleidocranial dysostosis with hearing loss. American Journal of Roentgenology, Radium therapy and Nuclear Medicine 125: 944-947 20. Larsen Syndrome 1. Larsen L J, Schottstaedt E R, Bost R C 1950 Multiple congenital dislocations associated with characteristic facial abnormality. Journal of Pediatrics 37: 574 2. Latta R J, Graham B, Aase J, Scham S M, Smith D W 1971 Larsen’s syndrome: a skeletal dysplasia with multiple joint dislocations and unusual facies. Journal of Pediatrics 78: 291 3. Steel H H, Kohl J 1972 Multiple congenital dislocations associated with other skeletal anomalies (Larsen’s syndrome) in three siblings. Journal of Bone and Joint Surgery 54A: 75 4. Robertson F W, Kozlowski K, Middleton R W 1975 Larsen’s syndrome. Clinical Pediatrics 14: 53-60 5. Micheli L J, Hall J E, Watts H G 1976 Spinal instability in Larsen’s svndrome. Journal of Bone and Joint Surgery 58A: 562-565 21. Otopalatodigital Syndrome 1. Dudding B A, Gorlin R J, Langer L O 1967 The oto-palato-digital syndrome. American Journal of Diseases of Children 113: 214' 2. Gall J C, Stern A M, Poznanski A K, Garn S M, Weinstein E D, Hayward J R 1972 Oto-palato-digital syndromes: comparison of clinical and radiographic manifestations in males and females. American Journal of Human Genetics 24: 24 3. Langer L O 1967 The roentgenographic features of the otopalato-digital (OPD) syndrome. Americal Journal of Roentgenologv, Radium Therapy and Nuclear Medicine 100: 63 4. Kozlowski K, Turner G, Scougall J, Harrington J 1977 Oto-palato-digital syndrome with severe X-ray changes in two half brothers. Pediatric Radiology 6: 97-102 B. Identifiable in Later Life 1. Hypochondroplasia 1. Beals R K 1969 Hypochondroplasia. A report of five kindreds. Journal of Bone and Joint Surgery 51 A: 728-739 2. Kozlowski K 1973 Hypochondroplasia. Progress in Pediatric Radiology 4: 238-249 3. Walker B A, Murdoch J L, McKusick V A, Langer L O, Beals R K 1971 Hypochondroplasia. American Journal of Diseases of Children 122: 95 4. Frydman M, Hertz M, Goodman R M 1974 The genetic entity of hypochondroplasia. Clinical Genetics 5: 223-229 5. Newman D E, Dunbar J S 1975 Hypochondroplasia. Journal of the Canadian Association of Radiologists 26: 95-103 2. Dyschondrosteosis 1. Langer L O Jr 1965 Dyschondrosteosis: A hereditable bone dysplasia with characteristic roentgenographic features. American Journal of Roentgenology, Radium Therapy and Nuclear Medicine 95: 178-188 2. Kaitila II, Leisti J T, Rimoin D L 1976 Mesomelic skeletal dysplasias. Clinical Orthopaedics 114: 94-106 3. Maroteaux P, Lamy M 1959 La dyschondrosteose. Sem Hop Paris 35: 3464-3470 4. Felman A H, Kirkpatrick 1970 Dyschondrosteose. American Journal of Diseases of Children 120: 329-331 5. Espiritu C, Chen H, Wooley P V 1975 Mesomelic dwarfism as the homozygous expression of dyschondrosteosis 129: 375-377 6. Carter A R, Currey H L 1974 Dyschondrosteosis (mesomelic dwarfism) - a family study. British Journal of Radiology 47: 634-640 3. Metaphyseal Chondrodysplasia Type Jansen 1. De Haas WHD, DeBoer W, Griffioen F 1969 Metaphyseal dysostosis. A late fellow-up of the first reported case. Journal of Bone and Joint Surgery 51 A: 290-299 2. Holt J F 1969 Discussion. In: Skeletal Dysplasias. Part IV, Birth Defects Original Article Series V(4): 73 3. Jansen M 1934 Uber atypische Chondrodystrophie (Achondroplasie) und fiber eine noch nicht beschriebene angeborene Wachstrumstorung des Knochensystems. Metaphysare Dysostose. Orthopedika Chirgica 61: 253-286 4. Metaphyseal Chondrodysplasia Type Schmid 1. Kozlowski K 1964 Metaphyseal dysostosis. Report of five familial and two sporadic cases of a mild type. American Journal of Roentgenology, Radium Therapy and Nuclear Medicine 91: 601-608 2. Stickler G R, Maher F R, Hunt J C, Burke E C, Rosevaer J W 1962 Familial bone disease resembling rickets (hereditary metaphyseal dysostosis). Pediatrics 29: 996 3. Dent C E, Normand I C 1964 Metaphyseal dysostosis type Schmid. Archives of Disease in Childhood 39: 444 4. Wekselman R 1977 Familial metaphyseal dysostosis. American Journal of Roentgenology, Radium Therapy and Nuclear Medicine 59-A: 690-691 5. Metaphyseal Chondrodysplasia Type McKusick 1. Lux S E, Johnston R B, August C S, Say B, Penchaszhadeh V B, Rosen F S, McKusick V A 1970 Chronic neutropenia and abnormal cellular immunity in cartilage-hair hvpoplasia. New England Journal of Medicine 282: 231-236 2. McKusick V A, Eldridge R, Hostetler J A, Ruangwit U, Egeland J A 1965 Dwarfism in the Amish II. Cartilage-hair hypoplasia. Bulletin of the Johns Hopkins Hospital 116: 285-326 3. Ray H C, Dorst J P 1973 Cartilage-hair hypoplasia. Progress in Pediatric Radiology 4: 270-298 6. Metaphyseal Chondrodysplasia with Exocrine Pancreatic Insufficiency and Cyclic Neutropenia 1. Schmerling D H, Prader A, Hitzig W H, Giedion A, Hadorn B, Kuhni M 1969 The syndrome of exocrine pancreatic insufficiency, neutropenia, metaphyseal dysostosis and dwarfism. Helvetica Paediatrica Acta 24: 547 2. Taybi H, Mitchell A D, Friedman G D 1969 Metaphyseal dysostosis and the associated syndrome of pancreatic insufficiency and blood disorders. Radiology 93: 563-571