Skip to main content
  • 241 Accesses

Abstract

The different phenotypes of disturbances of skeletal development have for centuries fascinated artists as well as medical men. As an example of one of the most well known skeletal dysplasias, achondroplasia, one may admire the painting Don Sebastian de Mora by Velasquez, in the Prado, Madrid.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 74.99
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  • Amling M, Neff L, Tanaka S, Inoue D et al. (1997) Bcl-2 lies downstream of parathyroid hormone-related peptide in a signaling pathway that regulates chondrocyte maturation during skeletal development. J Cell Biol 136:205–213

    Article  PubMed  CAS  Google Scholar 

  • Baker KM, Olson DS, Harding CO, Pauli RM (1997) Long-term survival in typical thanatophoric dysplasia type I. Am J Med Genet 70:427–436

    Article  PubMed  CAS  Google Scholar 

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

    Article  PubMed  CAS  Google Scholar 

  • Beck M, Roubicek M, Roger SJG, 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, Remoin 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, Remoin 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 

  • Brenner RE, Nerlich AN, Kirchner F, Mörike M, Terinde R, Teller WM (1993) Proliferation and collagen biosynthesis of osteoblasts and chondrocytes in short rib syndrome type Beemer. Am J Med Genet 46:584–591

    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 10:297–288

    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 I 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 C J, Bartsocas CS (eds). Skeletal Dysplasias New York, Allen R Liss Inc, pp. 441–449

    Google Scholar 

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

    Article  Google Scholar 

  • Chen H, Yang SS, Gonzalez E, Fowler M, Al Saadi (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 

  • Cohen MM, Jr (1997) Short-limb skeletal dysplasias and cran-iosynostosis — what do they have in common. Pediatr Radiol 27:442–446

    Article  PubMed  Google Scholar 

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

    Book  Google Scholar 

  • Cremin B, Goodman H, Prax M, Spranger J, Beighton P (1982) Wormian bones in osteogenesis imperfecta and other disorders. Skeletal Radiol 8:35–38

    Article  PubMed  CAS  Google Scholar 

  • Den Hollander NS, van der Harten HJ, Vermey-Keers C, Niermeijer MF, Wladimiroff JW (1997) First-trimester diagnosis of Blomstrand lethal osteochondrodysplasia. Am J Med Genet 73:345–350

    Article  Google Scholar 

  • Dimaio MS, Barth R, Koprivnikar KE et al. (1993) First-trimester prenatal diagnosis of osteogenesis imperfecta type II by DNA analysis and sonography. Prenat Diagn 13:589–596

    Article  PubMed  CAS  Google Scholar 

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

    CAS  Google Scholar 

  • Feshchenko SP, Rebrin I A, 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 

  • Foster JW, Dominguez-Steglich MA, Guioli S, Kwok C, Weiler PA (1994) Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene. Nature 372:525–530

    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 osteochondrodysplasia in infancy, a review. Pathol Annual 22:283–345

    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 

  • Goncalves L, Jeanty P (1994) Fetal biometry of skeletal dysplasias: a multicentric study. J Ultrasound Med 13:977–985

    PubMed  CAS  Google Scholar 

  • Gruber HE, Lachman RS, Rimoin DL (1990) Quantitative histology of cartilage vascular canals in the human rib. Findings in normal neonates and children and in achondrogenesis II-hypochondrogenesis. JAnat 173:69–75

    CAS  Google Scholar 

  • Hall BD (1992) Approach to skeletal dysplasia. Pediatr Clin North Am 39:279–305

    PubMed  CAS  Google Scholar 

  • Hall JG, Lopez-Rangel (1997) Bone dysplasias, nontraditional mechanisms of inheritance and monozygotic twins. Pediatr Radiol 27:422–427

    Article  PubMed  CAS  Google Scholar 

  • Hästbacka J, de la Chapelle A, Mahtani MM et al. (1994) The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping. Cell 78:1073–1087

    Article  PubMed  Google Scholar 

  • Henthorn PS, Whyte MP (1995) Infantile hypophosphatasia: successfull prenatal assessment by testing for tissue-nonspecific alkaline phosphatase isoenzyme gene mutations. Prenat Diagn 15:1001–1006

    Article  PubMed  CAS  Google Scholar 

  • Ho KL, Chang CH, Yang SS, Chason JL (1984) Neuropathologic findings in thanatophoric dysplasia. Acta Neuropathol (Berl) 63:218–228

    Article  CAS  Google Scholar 

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

    Google Scholar 

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

    Google Scholar 

  • Horton WA (1996) Evolution of the bone dysplasia family. Am J Med Genet 63:4–6

    Article  PubMed  CAS  Google Scholar 

  • Horton WA, Rimoin DL, Lachman RS et al (1978) The phenotypic variability of diastrophic dysplasia. J Pediatr 93:609–613

    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 AGW, Carpenter BF (1991) Atelosteogenesis I and Boomerang dysplasia: a question of nosology. Clin Genet 39:471–480

    Article  PubMed  CAS  Google Scholar 

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

    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 JDis Child 145:70–74

    CAS  Google Scholar 

  • Jobert AS, Zhang P, Couvineau A et al. (1998) Absence of functional recepters for parathyroid hormone and parathyroid hormone-related peptide in Blomstrand chondrodysplasia. J Clin Invest 102:34–40

    Article  PubMed  CAS  Google Scholar 

  • Jones KL (1996) Smith’s recognizable patterns of human malformation. 5th edn. Saunders, London

    Google Scholar 

  • Källén B, Knudsen LB, Mutchinick O et al. (1993) Monitoring dominant germ cell mutations using skeletal dysplasias registered in malformation registries. An international feasibility study. Int J Epidemiol 22:107–115

    Article  PubMed  Google Scholar 

  • Karaplis AC, Luz A, Glowacki J et al. (1994) Lethal skeletal dysplasia from targeted disruption of the parathyroid hormone-related peptide gene. Genes Devel 8:277–289

    Article  PubMed  CAS  Google Scholar 

  • Karperien M, van der Harten HJ, van Schooten R et al. (1999) A frame-shift mutation in the type I parathyroid hormone/parathyroid hormone-related peptide receptor causing Blomstrand lethal osteochondrodysplasia. J Clin Endocrinol Metabolism 84:3713–3720

    Article  CAS  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 B 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 

  • Lachman RS (1994) Fetal imaging in the skeletal dysplasias: overview and experience. Pediatr Radiol 24:413–417

    Article  PubMed  CAS  Google Scholar 

  • Langer LO Jr, Spranger JW, Greinacher 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 

  • Lanske B, Karaplis C, Lee K et al. (1996) PTH/PTHrP receptor in early development and Indian hedgehog-regulated bone growth. Science 273:663–666

    Article  PubMed  CAS  Google Scholar 

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

    PubMed  CAS  Google Scholar 

  • Lim MO, Gresham EL, Franken EAJr, Leake RD (1977) Osteomyelitis as a complication of umbilical artery catheterization. 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 (1991) Phenotypically dissimilar hypophosphatasia within two sib-ships. Am J Med Genet 42:117–121

    Article  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, Seiler R (1971) Polysyndactylie, verkürzte Gliedmassen und Geni-talfehlbindungen, Kenzeichen eines neuen Syndroms? Z Kinderheilk 111:118–138

    Article  PubMed  CAS  Google Scholar 

  • Mansour S, Hall CM, Pembrey ME, Young ID (1995) A clinical and genetic study of campomelic dysplasia. J Med Genet 32:415–420

    Article  PubMed  CAS  Google Scholar 

  • Maroteaux P, Lamy M, Robert SJM (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) Atelosteogenesis. Am J Med Genet 13:15–25

    Article  PubMed  CAS  Google Scholar 

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

    Article  PubMed  CAS  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 

  • McKusick VA. Amberger JS, Francomano CA (1996) Progress in medical genetics: map-based gene discovery and the molecular pathology of skeletal dysplasias. Am J Med Genet 63:98–105

    Article  PubMed  CAS  Google Scholar 

  • Meizner I, Barnhard Y (1995) Achondrogenesis type I diagnosed by transvaginal ultrasonography at 13 weeks gestation. Am J Obstet gynecol 173:1620–1622

    Article  PubMed  CAS  Google Scholar 

  • Mundlos S, Olsen BR (1997a) Heritable diseases of the skeleton. Part I: Molecular insights into skeletal development-transcription factors and signaling pathways. FASEB J11:125–132

    Google Scholar 

  • Mundlos S, Olsen BR (1997b) Heritable diseases of the skeleton. Part II: Molecular insights into skeletal development-matrix components and their homeostasis. FASEB J 11:227–233

    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 

  • Oestreich AE, Ahmad BS (1992) The periphysis and its effect on the metaphysis: I. Definition and normal radiographic pattern. Skeletal Radiol 21:283–286

    Article  PubMed  CAS  Google Scholar 

  • Oostra RJ, van der Harten HJ, Rijnders WPHA, Scot RJ, Young MPA, Trump D (2000) Blomstrand osteochondrodysplasia: three novel cases and histological evidence for heterogeneity. Virchows Archiv 436:28–35

    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. 115–1308

    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. AJR 76:455–468

    Google Scholar 

  • Orimo H, Nakajima E, Hayashi Z et al. (1996) First-trimester prenatal molecular diagnosis of infantile hypophosphatasia in a Japanese family. Prenat Diagn 16:559–563

    Article  PubMed  CAS  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 Gen 21:613–630

    Article  CAS  Google Scholar 

  • Ornoy A, Adomian GE, Rimoin DL (1985b) Histologic and ultra-structural 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 delia osteoge-nesi imperfecta. Pathologica 28:447–461

    Google Scholar 

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

    Article  PubMed  CAS  Google Scholar 

  • Prockop DJ, Colige A, Helminen H, Khillan JS, Pereira R, Vandenberg P (1993) Mutations in type 1 procollagen that cause osteogenesis imperfecta: effects of the mutations on the assembly of collagen into fibrils, the basis of pheno-typic variations, and potential antisense therapies. J Bone Mineral Res 8 (suppl 2): S489–S492

    Article  Google Scholar 

  • Qureshi F, Jacques SM, Johnson SF et al. (1995) Histopathology of fetal diastrophic dysplasia. Am J Med Genet 56:300–303.

    Article  PubMed  CAS  Google Scholar 

  • Rasmussen SA, Bieber FR, Benacerraf BR, Lachman RS, Rimoin DL, Holmes LB (1996) Epidemiology of osteochondrodys-plasias: changing trends due to advances in prenatal diagnosis. Am J Med Genet 61:49–58

    Article  PubMed  CAS  Google Scholar 

  • Reardon W (1996) Skeletal dysplasias detectable by DNA analysis. Prenat Diagn 16:1221–1236

    Article  PubMed  CAS  Google Scholar 

  • Rimoin DL, for the International Working Group on Constitutional Diseases of Bone (1998) International Nomenclature and Classification of the Osteochondrodys-plasias (1997) Am J Med Genet 79:376–382

    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

    Google Scholar 

  • Rossi A, van der Harten HJ, Beemer FA et al. (1996) Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia. Hum Genet 98:657–661

    Article  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, Seibert JJ, Haynes DW (1982) The histopathology of camptomelia (bent limbs), a dyschon-drogenesis. 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 

  • Schrander-Stumpel C, Havenith M, van der Linden EV et al. (1994) De la Chapelle dysplasia (atelosteogenesis type II): case report and review of the literature. Clin Dysmorphol 3:318–327

    Article  PubMed  CAS  Google Scholar 

  • Schutgens RBH, Wanders RJA, Nijenhuis AA, Purvis R, Dekker C (1993) Rhizomelic chondrodysplasia punctata; prenatal diagnosis by biochemical analyses. Int Pediatr 8:45–51

    Article  Google Scholar 

  • Sharony R, Browne CH, Lachman RS, Rimoin DL (1993) Prenatal diagnosis of the skeletal dysplasias. Am J Obsted Gynecol 169:668–675

    CAS  Google Scholar 

  • Shiang R, Thompson LM, Zhu Y, Church DM, Fielder TJ, Bocian M et al. (1994) Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. Cell 78:335–342

    Article  PubMed  CAS  Google Scholar 

  • Shohat M, Rimoin DL, Gruber HE, Lachman RS 1991 Perinatal lethal hypophosphatasia; clinical, radiologic and morphologic findings. Pediatr Radiol 21:421–427

    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) Morphologic 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 pheno-type with reference to genetic heterogeneity. Am J Med Genet 17:407–423

    Article  PubMed  CAS  Google Scholar 

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

    Article  PubMed  CAS  Google Scholar 

  • Sillence DO, Worthington S, Dixon J, Osborn R Kozlowski K (1997) Atelosteogenesis syndromes: a review, with comments on their pathogenesis. Pediatr Radiol 27:388–396

    Article  PubMed  CAS  Google Scholar 

  • Smith R (1994) Osteogenesis imperfecta: from phenotype to genotype and back again. Int JExp Pathol 75:233–241

    CAS  Google Scholar 

  • Soothill PW, Vuthiwong C, Rees H (1993) Achondrogenesis type 2 diagnosed by transvaginal ultrasound at 12 weeks gestation. Prenat Diagn 13:523–528

    Article  PubMed  CAS  Google Scholar 

  • Spranger J (1988) Bone dysplasia “families”. Pathol Immunopathol Res 7:76–80

    Article  PubMed  CAS  Google Scholar 

  • Spranger J, for the International Working Group on Constitutional Diseases of bone (1992) International classification of osteochondrodysplasias. Am J Med Genet 44: 223–229

    Article  Google Scholar 

  • Spranger J, Maroteaux P (1990) Lethal osteochondrodysplasias. In Harris H, Hirschhorn E (eds): Advances in Human Genetics 19. New York: Plenum Press, pp 1–103

    Google Scholar 

  • Spranger J, Winterpacht A, Zabel B (1994) The type II collagenopathies: a spectrum of chondrodysplasias. Eur J Pediatr 153:56–65

    PubMed  CAS  Google Scholar 

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

    Google Scholar 

  • Steiner RD, Pepin M, Byers PH (1996) Studies of collagen synthesis and structure in the differentiation of child abuse from osteogenesis imperfecta. J Pediatr 128:542–547

    Article  PubMed  CAS  Google Scholar 

  • Superti-Furga A, Hästbacka J, Wilcox WR, Cohn DH, van der Harten HJ, Rossi A et al. (1996a) Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene. Nature Genet 12:100–102

    Article  PubMed  CAS  Google Scholar 

  • Superti-Furga A, Hästbacka J, Rossi A et al. (1996b) A family of chondrodysplasias caused by mutations in the diastrophic dysplasia sulfate transporter gene and associated with impaired sulfation of proteoglycans. Ann New York Acad Sci 785:195–201

    Article  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 11:69–72

    Article  Google Scholar 

  • Tavormina PL, Shiang R, Thompson LM et al. (1995) Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3. Nature Genet 9:321:328

    Google Scholar 

  • Taybi H, Lachman RS (1990) Radiology of syndromes, metabolic disorders and skeletal dysplasias, 3rd edn. Year Book Medical Publishers, Chicago

    Google Scholar 

  • Thomas IT, Frias JL, Felix V, Sanchez de Leon L, Hernandez RA, Jones MC (1986) Isolated and syndromic cryptophthalmos. 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, Niermeijer MF, Meijer CJLM, van Geijn HP 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, Bron SJTJ, 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 

  • van der Harten HJ, Brons JTJ et al. (1993) Some variants of lethal neonatal short-limbed platyspondylic dysplasia: a radiological ultrasonographic, neuropathological and histopathological study of 22 cases. Clin Dysmorphol 2: 1–19

    PubMed  Google Scholar 

  • van Zalen-Sprock RM, Brons JTJ, van Vugt JMG, van der Harten HJ, Van Geijn HP (1997) Ultrasonographic and radiologic visualization of the developing embryonic skeleton. Ultrasound Obstet Gynecol 9:392–397

    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 11:167–174

    Google Scholar 

  • Wagner T, Wirth J, Meyer J et al. (1994) Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9. Cell 79: 1111–1112.

    Article  PubMed  CAS  Google Scholar 

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

    PubMed  CAS  Google Scholar 

  • Wiedemann HR, Grosse KR, Dibbern H (1991) An atlas of clinical syndromes. Visual aid to diagnosis. Wolfe Medical publications, 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, Stewart PA (1984) Prenatal diagnosis of skeletal dysplasia by real-time 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 hypophosphatasia. Prenat Diagn 5:47–52

    Article  PubMed  CAS  Google Scholar 

  • Wongmongkolrit Th, Bush M, Roessmann U (1983) Neuropathologic 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 chondrocytic 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 clinico-pathologic study. Am J Med Genet Suppl 3:191–207

    Article  PubMed  Google Scholar 

  • Young SA, Crocker DW (1994) Occult congenital syphylis in macerated stillborn fetuses. Arch Pathol Lab Med 118:44–47

    PubMed  CAS  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 

  • Zenmyo M, Komiya S, Kawabata R, Sasaguri Y, Inoue A, Morimatsu M (1996) Morphological and biochemical evidence for apoptosis in the terminal hypertrophic chondrocytes of the growth plate. J Pathol 180:430–433

    Article  PubMed  CAS  Google Scholar 

Download references

Authors

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 2001 Springer-Verlag London

About this chapter

Cite this chapter

van der Harten, H.J. (2001). The Skeletal System. In: Keeling, J.W. (eds) Fetal and Neonatal Pathology. Springer, London. https://doi.org/10.1007/978-1-4471-3682-8_26

Download citation

  • DOI: https://doi.org/10.1007/978-1-4471-3682-8_26

  • Publisher Name: Springer, London

  • Print ISBN: 978-1-4471-3684-2

  • Online ISBN: 978-1-4471-3682-8

  • eBook Packages: Springer Book Archive

Publish with us

Policies and ethics