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Abstract

The different phenotypes of disturbances of skeletal development have for centuries fascinated artists as well as medical men. As an example of achondroplasia, one may admire the painting Don Sebastian de Mora by Velasquez, in the Prado, Madrid. There are, at present, more than 500 disorders known in which the skeleton is involved. These are mostly congenital disorders and are, in part, genetic in nature. The birth prevalence of each disorder is low but, as a whole, they constitute a significant body of disease in childhood. Reliable estimates on their frequency are scarce. The overall frequency among stillbirths and live-borns has been estimated to be 1 per 4000 births and the frequency among perinatal deaths is 1 per 110 deaths (Camera et al. 1982; Orioli et al. 1986).

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References

  • Bankier A, Fortune D, Duke J, Sillence DO (1991) Fibro-chondrogenesis in male twins at 24 weeks gestation. Am J Med Genet 38: 95–98

    Article  PubMed  CAS  Google Scholar 

  • Beck M, Roubieck M, Rogers JG, Naumoff P, Spranger J (1983) Heterogeneity of metatropic dysplasia. Eur J Pediatr 140: 231–237

    Article  PubMed  CAS  Google Scholar 

  • Beemer FA, Langer LO Jr, Klep-de Pater JM et al. (1983) A new short rib syndrome: report of two cases. Am J Med Genet 14: 115–123

    Article  PubMed  CAS  Google Scholar 

  • Beighton P (1988) Inherited disorders of the skeleton. Churchill Livingstone, Edinburgh

    Google Scholar 

  • Bernstein R, Isdale J, Pinto M, Du Toit Zaayman J, Jenkins T (1985) Short rib-polydactyly syndrome: a single or heterogeneous entity? A re-evaluation prompted by four new cases. J Med Genet 22: 46–53

    Article  PubMed  CAS  Google Scholar 

  • Borochowitz Z, Ornoy A, Lachman R, Rimoin DL (1986) Hypochondrogenesis-achondrogenesis II-variability vs. heterogenecity. Am J Med Genet 24: 273–388

    Article  PubMed  CAS  Google Scholar 

  • Borochowitz Z, Lachman R, Adomian GE, Spear G, Jones K, Rimoin D (1988) Achondrogenesis type I: delineation of further heterogeneity and identification of two distinct subgroups. J Pediatr 112: 23–31

    Article  PubMed  CAS  Google Scholar 

  • Brighton CT (1984) The growth plate. Orthop Clin North Am 15: 571–595

    PubMed  CAS  Google Scholar 

  • Brons JTJ, van der Harten HJ, Wladimiroff JW et al. (1988a) Prenatal ultrasonographic diagnosis of osteogenesis imperfecta. Am J Obstet Gynecol 159: 176–181

    PubMed  CAS  Google Scholar 

  • Brons JTJ, van Geijn HP, Wladimiroff JW et al. (1988b) Prenatal ultrasound diagnosis of the Holt-Oram syndrome. Prenat Diagn 8: 175–181

    Article  PubMed  CAS  Google Scholar 

  • Brons JTJ, van der Harten JJ, van Geijn HP et al. (1988c) Prenatal ultrasonographic diagnosis of radial-ray reduction malformations. Prenat Diagn 10: 279–288

    Article  Google Scholar 

  • Brons JTJ, van der Harten JJ, van Geijn HP et al. (1990) Ratios between growth parameters for the prenatal ultrasonographic diagnosis of skeletal dysplasias. Eur J Obstet Gynecol Reprod Biol 34: 37–46

    Article  PubMed  CAS  Google Scholar 

  • Buckwalter JA (1983) Proteoglycan structure in calcifying cartilage. Clin Orthop Relat Res 172: 207–232

    PubMed  CAS  Google Scholar 

  • Byers PH, Tsipouras P, Banadio JF, Starman B, Schwartz RC (1988) Perinatal lethal osteogenesis imperfecta (OI type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type 1 collagen. Am J Hum Genet 42: 237–248

    PubMed  CAS  Google Scholar 

  • Camera G, Mastroacovo P (1982) Birth prevalence of skeletal dysplasias in the Italian Multicentric Monitoring System for birth defects. In: Papadatos CJ, Bartsocas CS (eds) Skeletal dysplasias New York, Liss, pp 441-449

    Google Scholar 

  • Caswell AM, Russell RG, Whyte MP (1989) Hypophos-phatasia: pediatric forms. J Pediatr Endocrinol 3: 73–92

    Article  Google Scholar 

  • Chen H, Yang SS, Gonzalez E, Fowler M, Al Saadi A (1980) Short rib-polydactyly syndrome Majewski type. Am J Med Genet 7: 215–222

    Article  PubMed  CAS  Google Scholar 

  • Chen H, Liu CT, Yang SS (1981) Achondrogenesis: a review with special consideration of achondrogenesis type II (Langer-Saldino). Clin Genet 10: 379–394

    CAS  Google Scholar 

  • Cremin BJ, Beighton P (1978) Bone dysplasias of infancy, a radiological atlas. Springer, Berlin Heidelberg New York

    Book  Google Scholar 

  • Faden M, Grossi M (1991) Acute osteomyelitis in children. Am J Dis Child 145: 65–69

    PubMed  CAS  Google Scholar 

  • Feshchenko SP, Rebrin IA, Sokolnik VP et al. (1989) The absence of type II collagen and changes in proteoglycan structure of hyaline cartilage in a case of Langer-Saldino achondrogenesis. Hum Genet 82: 49–54

    Article  PubMed  CAS  Google Scholar 

  • Fox L, Sprunt K (1978) Neonatal osteomyelitis. Pediatrics 62: 535–542

    PubMed  CAS  Google Scholar 

  • Fraccaro M (1952) Contributo allo studio delle malattie del mesenchima osteopoietico l’acondrogenesi. Folia Hered Pathol 1: 190–207

    Google Scholar 

  • Fraser CR (1962) Our genetic “load”: A review of some aspects of genetic variation. Ann Hum Genet 25: 387–415

    Article  Google Scholar 

  • Gilbert EF, Yang SS, Langer L, Opitz JM, Roskamp JO, Heidelberger KP (1987) Pathologic changes of osteochon-drodysplasia in infancy, a review. Pathol Annu 22: 283–345

    PubMed  Google Scholar 

  • Godfrey M, Hollister DW (1988) Type II achondrogenesis— hypochondrogenesis: identification of abnormal type II collagen. Am J Hum Genet 43: 904–913

    PubMed  CAS  Google Scholar 

  • Greco MA, Alvarez SP, Genieser NB, Becker MH (1984) Dyssegmental dwarfism: a histologic study of osseous and nonosseous cartilage. Hum Pathol 15: 490–493

    Article  PubMed  CAS  Google Scholar 

  • Ho Kl, Chang CH, Yang SS, Chason JL (1984) Neuropatho-logic findings in thanatophoric dysplasia. Acta Neuro-pathol (Berl) 63: 218–228

    Article  CAS  Google Scholar 

  • Hobbins JC, Bracken MB, Mahoney MJ (1982) Diagnosis of fetal skeletal dysplasias with ultrasound. Am J Obstet Gynecol 142: 306–312

    PubMed  CAS  Google Scholar 

  • Holtermüller K, Wiedemann HR (1960) Kleeblattschädel syndrome. Med Monatsschr 14: 439–446

    Google Scholar 

  • Horton WA, Rimoin DL (1979) Kniest dysplasia. A histo-chemical study of the growth plate. Pediatr Res 13: 1266–1270

    Article  PubMed  CAS  Google Scholar 

  • Horton WA, Rimoin DL, Hollister DW, Silverberg R (1979) Diastrophic dwarfism: a histochemical and ultrastructural study of the endochondral growth plate. Pediatr Res 13: 904–909

    Article  PubMed  CAS  Google Scholar 

  • Horton WA, Harris DJ, Collins DL (1983) Discordance for the Kleeblattschädel anomaly in monozygotic twins with thanatophoric dysplasia. Am J Med Genet 15: 97–101

    Article  PubMed  CAS  Google Scholar 

  • Horton WA, Campbell D, Machado MA, Chou J (1989) Type II collagen screening in the human chondrodysplasias. Am J Med Genet 34: 579–583

    Article  PubMed  CAS  Google Scholar 

  • Houston CS, Opitz JM, Spranger JW et al. (1983) The campomelic syndrome: review report of 17 cases, and follow up on the currently 17-year-old boy first reported by Maroteaux et al. in 1971. Am J Med Genet 15: 3–28

    Article  PubMed  CAS  Google Scholar 

  • Hunter GK (1991) Role of proteoglycan in the provisional calcification of cartilage, a review and reinterpretation. Clin Orthop Relat Res 262: 256–280

    PubMed  Google Scholar 

  • Hwang WS, McQueen D, Monson RC, Reed MH (1982) The significance of cytoplasmic chondrocyte inclusions in multiple osteochondromatosis, solitary osteochondromas and chondrodysplasias. Am J Clin Pathol 78: 89–91

    PubMed  CAS  Google Scholar 

  • Ikeda MK, Jenson HB (1990) Evaluation and treatment of congenital syphilis. J Pediatr 117: 843–852

    Article  PubMed  CAS  Google Scholar 

  • Jacobs NM (1991) Pneumococcal osteomyelitis and arthritis in children. Am J Dis Child 145: 70–74

    PubMed  CAS  Google Scholar 

  • Jones KL (1988) Smith’s recognizable patterns of human malformation, 4th edn. Saunders, London

    Google Scholar 

  • Knisely AS, Ambler MW (1988) Temporal-lobe abnormalities in thanatophoric dysplasia. Pediatr Neurosci 14: 169–176

    Article  PubMed  CAS  Google Scholar 

  • Knudsen CJM, Hoffman EB (1990) Neonatal osteomyelitis. J Bone Jt Surg Ser 72: 846–851

    CAS  Google Scholar 

  • Kozlowski K (1985) The radiographic clues in the diagnosis of bone dysplasia. Pediatr Radiol 15: 1–3

    Article  PubMed  CAS  Google Scholar 

  • Kozlowski K, Tsuruta T, Kameda Y, Kan A, Leslie G (1981) New forms of neonatal death dwarfism. Report of three cases. Pediatr Radiol 10: 155–160

    Article  PubMed  CAS  Google Scholar 

  • Langer LO Jr, Spranger JW, Greincher I, Herdman RC (1969) Thanatophoric dwarfism: a condition confused with achondroplasia in the neonate, with brief comments on achondrogenesis and homozygous achondroplasia. Radiology 92: 285–294

    PubMed  Google Scholar 

  • Langer LO Jr, Yang SS, Hall JG et al. (1987) Thanatophoric dysplasia and cloverleaf skull. Am J Med Genet (Suppl 3): 167–179

    Article  Google Scholar 

  • Lazzaroni-Fossati F, Stanescu V, Stanescu R, Serra G, Magliano P, Maroteaux P (1978) La fibrochondrogenèse. Arch Fr Pediatr 35: 1096–1104

    PubMed  CAS  Google Scholar 

  • Lim MO, Gresham EL, Franken EA Jr, Leake RD (1977) Osteomyelitis as a complication of umbilical artery catheterisation. Am J Dis Child 131: 142–144

    PubMed  CAS  Google Scholar 

  • Lurie IW, Cherstvoy ED (1984) Renal agenesis as a diagnostic feature of the cryptophthalmos-syndactyly syndrome. Clin Genet 25: 528–532

    Article  PubMed  CAS  Google Scholar 

  • MacDonald IM, Hunter AGW, MacLeod PM, MacMurray SB (1989) Growth and development in thanatophoric dysplasia. Am J Med Genet 33: 508–512

    Article  PubMed  CAS  Google Scholar 

  • Macfarlane JD, Kroon HM, van der Harten JJ (1992) Pheno-typically dissimilar hypophosphatasia in two sibships. Am J Med Genet 42: 117–121

    Article  PubMed  CAS  Google Scholar 

  • Macpherson RI, Wood BP (1980) Spondyloepiphyseal dysplasia congenita: a cause of lethal neonatal dwarfism. Pediatr Radiol 9: 217–224

    Article  PubMed  CAS  Google Scholar 

  • Majewski F, Pfeiffer RA, Lenz W, Müller R, Feil G, Sciler R (1971) Polysyndactylie, verkürzte Gliedmassen und Genitalfehlbindungen, Kenzeichen eines neuen Syndroms? Z Kinderheilk 111: 118–138

    Article  PubMed  CAS  Google Scholar 

  • Maroteaux P, Lamy M, Roberts JM (1967) Le nanisma thanatophore. Presse Med 75: 2519–2524

    PubMed  CAS  Google Scholar 

  • Maroteaux P, Stanescu V, Stanescu R (1976) The lethal chondrodysplasias. Clin Orthop Relat Res 114: 31–45

    PubMed  Google Scholar 

  • Maroteaux P, Spranger J, Stanescu V et al. (1982) Atelosteo-genesis. Am J Med Genet 13: 15–25

    Article  PubMed  CAS  Google Scholar 

  • Maroteaux P, Stanescu V, Stanescu R (1983) Hypochondro-genesis. Eur J Pediatr 141: 14–22

    Article  PubMed  CAS  Google Scholar 

  • Maroteaux P, Beighton P, Cremin B et al. (1984) International nomenclature of constitutional diseases of bone. Ann Radiol 27: 275–280

    Google Scholar 

  • Maroteaux P, Frézal J, Cohen-Solal L, Bonaventure J (1986) Les formes anténatales de l’osteogenèse imparfaite, essai de classification. Arch Fr Pediatr 43: 235–241

    PubMed  CAS  Google Scholar 

  • Naumoff P, Young LW, Mazer J, Amortegui AJ (1977) Short rib-polydactyly syndrome type 3. Radiology 122: 443–447

    PubMed  CAS  Google Scholar 

  • Nogami H, Oohira A, Kuroyanagi M, Mizutani A (1986) Congenital bowing of long bones: clinical and experimental study. Teratology 33: 1–7

    Article  PubMed  CAS  Google Scholar 

  • Oppenheimer EH, Dahms BB (1981) Congenital syphilis in the fetus and neonate. In: Rozenberg HS, Bernstein J (eds) Perspectives in pediatric pathology, vol 6. Year Book Medical Publishers, Chicago, pp 115–138

    Google Scholar 

  • Oppenheimer SJ, Snodgrass GJAI (1980) Neonatal rickets. Histopathology and quantitative bone changes. Arch Dis Child 55: 945–949

    Article  PubMed  CAS  Google Scholar 

  • O’Rahilly R, Meijer DB (1956) Roentgenographic investigation of the human skeleton during early fetal life. Am J Roentgenol 76: 455–468

    Google Scholar 

  • Orioli IM, Castilla EE, Barbosa Neto JG (1986) The birth prevalence rates for the skeletal dysplasias. J Med Genet 23: 328–332

    Article  PubMed  CAS  Google Scholar 

  • Ornoy A, Adomian GE, Eteson DJ, Berguson RE, Rimoin DL (1985a) The role of abnormal mesenchyme-like tissue in the pathogenesis of thanatophoric dysplasia. Am J Med Genet 21: 613–630

    Article  PubMed  CAS  Google Scholar 

  • Ornoy A, Adomian GE, Rimoin DL (1985b) Histologic and ultrastructural studies on the mineralization process in hypophosphatasia. Am J Med Genet 22: 743–758

    Article  PubMed  CAS  Google Scholar 

  • Parenti GC (1936) La anosteogenesi: una varieta della osteogenesi imperfecta. Pathologica 28: 447–461

    Google Scholar 

  • Pope FM, Nickolls AC, Mc Pheat et al. (1985) Collagen genes and proteins in osteogenesis imperfecta. J Med Genet 22: 466–478

    Article  PubMed  CAS  Google Scholar 

  • Romero R, Athanassiadis AP, Jeanty Ph (1990) Fetal skeletal anomalies. In: Benacerraf BR (ed) Fetal ultrasound. Radiol Clin North Am 28: 75–99

    PubMed  CAS  Google Scholar 

  • Roth M (1991) Campomelic syndrome: experimental models and pathomechanism. Pediatr Radiol 21: 220–225

    Article  PubMed  CAS  Google Scholar 

  • Roth SI, Jimenez JF, Husted S, Scibert JJ, Haynes DW (1982) The histopathology of camptomelia (bent limbs), a dyschondrogenesis. Clin Orthop Relat Res 167: 152–159

    PubMed  Google Scholar 

  • Rubin P (1964) Dynamic classification of bone dysplasias. Year Book Medical Publishers, Chicago

    Google Scholar 

  • Saldino RM (1971) Lethal short-limbed dwarfism: achondrogenesis and thanatophoric dwarfism. Am J Roentgenol Radium Ther Nucl Med 112: 185–197

    PubMed  CAS  Google Scholar 

  • Saldino RM, Noonan CD (1972) Severe thoracic dystrophy with striking micromelia, abnormal osseous development, including the spine and multiple visceral abnormalities. Am J Roentgenol Radium Ther Nucl Med 114: 257–261

    PubMed  CAS  Google Scholar 

  • Serville F, Carles D, Maroteaux P (1984) Thanatophoric dysplasia of identical twins. Am J Med Genet 17: 703–705 (letter)

    Article  PubMed  CAS  Google Scholar 

  • Sillence DO (1980) Invited editorial comment: non-Majewski short rib-polydactyly syndrome. Am J Med Genet 7: 223–229

    Article  PubMed  CAS  Google Scholar 

  • Sillence DO, Horton WA, Rimoin DL (1979a) Morphologie studies in the skeletal dysplasias. Am J Pathol 96: 811–870

    Google Scholar 

  • Sillence DO, Senn A, Danks DM (1979b) Genetic heterogeneity in osteogenesis imperfecta. J Med Genet 16: 101–116

    Article  PubMed  CAS  Google Scholar 

  • Sillence DO, Lachman RS, Jenkins T, Riccardi VM, Rimoin DL (1982) Spondylohumerofemoral hypoplasia (giant cell chondrodysplasia): a neonatally lethal short-limb skeletal dysplasia. Am J Med Genet 13: 7–14

    Article  PubMed  CAS  Google Scholar 

  • Sillence DO, Barlow KK, Garber AP, Hall JG, Rimoin DL (1984) Osteogenesis imperfecta type II, delineation of the phenotype with reference to genetic heterogeneity. Am J Med Genet 17: 407–423

    Article  PubMed  CAS  Google Scholar 

  • Sillence DO, Kozlowski K, Rogers JG, Spraque PL, Cullity GJ, Osborn RA (1987) Atelosteogenesis: evidence for heterogeneity. Pediatr Radiol 17: 112–118

    Article  PubMed  CAS  Google Scholar 

  • Spranger J, Grimm B, Weller M et al. (1974) About ribpolydactyly (SRP) syndromes, types Majewski and Saldino-Noonan. Z Kinderheilk 116: 73–94

    Article  PubMed  CAS  Google Scholar 

  • Stanescu V, Stanescu R, Maroteaux P (1977) Etude morphologique et biochemique du cartilage de croissance dans les ostéochondrodysplasies. Arch Fr Pediatr [Suppl 3]: 1–80

    Google Scholar 

  • Stanescu V, Stanescu R, Maroteaux P (1984) Pathogenic mechanisms in osteochondrodysplasias. J Bone Joint Surg [Am] 66: 817–836

    CAS  Google Scholar 

  • Stern HJ, Graham JM Jr, Lachman S et al. (1990) Atelosteogenesis type III: a distinct skeletal dysplasia with features overlapping atelosteogenesis and oto-palato-digital syndrome type II. Am J Med Genet 36: 183–195

    Article  PubMed  CAS  Google Scholar 

  • Sykes B, Wordsworth P, Ogilvie D, Anderson J, Jones N (1986) Osteogenesis imperfecta is linked to both type I collagen structural genes. Lancet II: 69–72

    Article  Google Scholar 

  • Thomas IT, Frias JL, Felix V, Sanchez de Leon L, Hernandez RA, Jones MC (1986) Isolated and syndromic cryptoph-thalmos. Am J Med Genet 25: 85–98

    Article  PubMed  CAS  Google Scholar 

  • Thompson EM, Young ID, Hall CM, Pembrey ME (1987) Recurrence risk and prognosis in severe sporadic osteogenesis imperfecta. J Med Genet 24: 390–405

    Article  PubMed  CAS  Google Scholar 

  • Toohey JS (1985) Skeletal presentation of congenital syphilis: case report and review of the literature. J Pediatr Orthop 5: 104–106

    Article  PubMed  CAS  Google Scholar 

  • Van der Harten HJ, Brons JTJ, Dijkstra PF et al. (1988a) Achondrogenesis, hypochondrogenesis, the spectrum of chondrogenesis imperfecta: a radiologic, ultrasonographic and histopathologic study of 23 cases. Pediatr Pathol 8: 571–597

    Article  PubMed  Google Scholar 

  • Van der Harten HJ, Brons JTJ, Dijkstra PF et al. (1988b) Perinatal lethal osteogenesis imperfecta: radiologic and pathologic evaluation of seven prenatally diagnosed cases. Pediatr Pathol 8: 233–252

    Article  PubMed  Google Scholar 

  • Van der Harten HJ, Brons JTJ, Schipper NW, Dijkstra PF, Meijer CJLM, van Geijn HP (1990) The prenatal development of the normal human skeleton: a combined ultrasonographic and post-mortem radiographic study. Pediatr Radiol 21: 52–56

    Article  PubMed  Google Scholar 

  • Verma IC, Bhargava S, Agarwal S (1975) An autosomal recessive form of lethal chondrodystrophy with severe thoracic narrowing rhizoacromelic type of micromelia Polydactyly and genital abnormalities. In: Bergsma D (ed) Birth defects 11(6): 167-174

    Google Scholar 

  • Weissberg ED, Smith AL, Smith DH (1974) Clinical features of neonatal osteomyelitis. Pediatrics 53: 505–510

    PubMed  CAS  Google Scholar 

  • Whitley CB, Gorlin RJ (1983) Achondrogenesis: new nosology with evidence of genetic heterogeneity. Radiology 148: 693–698

    PubMed  CAS  Google Scholar 

  • Wiedemann HR, Grosse KR, Dibbern H (1985) An atlas of characteristic syndromes. A visual aid to diagnosis. Wolfe Medical, London

    Google Scholar 

  • Winter RM, Sandin BM, Mitchell RA, Price AB (1984) The radiology of stillbirths and neonatal deaths. Br J Radiol 91: 762–765

    CAS  Google Scholar 

  • Wladimiroff JW, Niermeyer MF, Laar J, Jahoda M, Steward PA (1984) Prenatal diagnosis of skeletal dysplasia by realtime ultrasound. Obstet Gynecol 63: 360–364

    PubMed  CAS  Google Scholar 

  • Wladimiroff JW, Niermeyer MF, van der Harten JJ et al. (1985) Early prenatal diagnosis of congenital hypophos-phatasia. Prenat Diagn 5: 47–52

    Article  PubMed  CAS  Google Scholar 

  • Wongmongkolrit Th, Bush M, Roessmann U (1983) Neuro-pathologic findings in thanatophoric dysplasia. Arch Pathol Lab Med 107: 132–135

    PubMed  CAS  Google Scholar 

  • Yang SS, Heidelberger KP, Brough AJ, Corbet DP, Bernstein J (1976) Lethal short-limbed chondrodysplasia in early infancy. In: Rosenberg HS, Bolande RP (eds) Perspectives in pediatric pathology, vol 3. Year Book Medical Publishers, Chicago, pp 1–40

    Google Scholar 

  • Yang SS, Lin CS, Al Saadi A, Nangia BS, Bernstein J (1980) Short rib-polydactyly syndrome type 3 with chondrocyte inclusions: report of a case and review of the literature. Am J Med Genet 7: 205–213

    Article  PubMed  CAS  Google Scholar 

  • Yang SS, Roskamp J, Liu CT, Frates R, Singer DB (1983) Two lethal chondrodysplasias with giant chondrocytes. Am J Med Genet 15: 615–625

    Article  PubMed  CAS  Google Scholar 

  • Yang SS, Langer LO Jr, Cacciarelli A et al. (1987) Three conditions in neonatal asphyxiating thoracic dysplasia (Jeune) and short rib-polydactyly syndrome spectrum: a clinicopathologic study. Am J Med Genet [Suppl] 3: 191–207

    Article  Google Scholar 

  • Young ID, Thompson EM, Hall CM, Pembrey ME (1987) Osteogenesis imperfecta type II A: evidence for dominant inheritance. J Med Genet 24: 386–389

    Article  PubMed  CAS  Google Scholar 

Addendum

  • Spranger J, for The International Working Group on Constitutional Diseases of Bone (1992) International classification of osteochondrodysplasias. Eur J Pediatr 151:407–415

    Google Scholar 

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van der Harten, H.J. (1993). The Skeletal System. In: Keeling, J.W. (eds) Fetal and Neonatal Pathology. Springer, London. https://doi.org/10.1007/978-1-4471-3802-0_26

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