Download PDF
Semin Musculoskelet Radiol 2021; 25(01): 022-038
DOI: 10.1055/s-0041-1723964
Review Article

Imaging of Congenital Skeletal Disorders

Maria Pilar Aparisi Gómez
1   Department of Radiology, National Women's Ultrasound, Auckland City Hospital, Auckland, New Zealand
2   Department of Radiology, Hospital Vithas Nueve de Octubre, Valencia, Spain
,
Giovanni Trisolino
3   Pediatric Orthopedics and Traumatology, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy
,
Luca Sangiorgi
4   Rare Skeletal Diseases, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy
,
Giuseppe Guglielmi
5   Department of Radiology, Hospital San Giovanni Rotondo, San Giovanni Rotondo, Italy
6   Department of Radiology, University of Foggia, Foggia, Italy
,
Alberto Bazzocchi
7   Diagnostic and Interventional Radiology, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy
› Author Affiliations
› Further Information
Also available at
   Permissions and Reprints

Abstract

Osteochondrodysplasias are the result of the expression of gene mutations. The phenotypes in osteochondrodysplasias evolve through life, with the possibility that previously unaffected bones may be involved at later stages of growth. Due to the variable time of onset, the diagnosis may be made prenatally, at birth, or later. Certainty in the diagnosis is sometimes only achieved as the patient matures and the disease evolves. Radiographic evaluation is a fundamental part of the diagnostic work-up of congenital skeletal disorders and in most cases the first tool used to arrive at a diagnosis. This review describes the imaging characteristics, specific signs, and evolution of several skeletal dysplasias in which diagnosis may be directly or indirectly suggested by radiologic findings. A definitive accurate diagnosis of a congenital skeletal abnormality is necessary to help provide a prognosis of expected outcomes and to counsel parents and patients.

Keywords

musculoskeletal - rare disease - radiography - skeletal dysplasia - congenital


Publication History

Article published online:
21 May 2021

© 2021. Thieme. All rights reserved.

Thieme Medical Publishers, Inc.
333 Seventh Avenue, 18th Floor, New York, NY 10001, USA

 

  • References

  • 1 Hall CM. International nosology and classification of constitutional disorders of bone (2001). Am J Med Genet 2002; 113 (01) 65-77
    CrossrefPubMedSearch in Google Scholar
  • 2 Offiah AC, Hall CM. Radiological diagnosis of the constitutional disorders of bone. As easy as A, B, C?. Pediatr Radiol 2003; 33 (03) 153-161
    CrossrefPubMedSearch in Google Scholar
  • 3 Warman ML, Cormier-Daire V, Hall C. et al. Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet A 2011; 155A (05) 943-968
    CrossrefPubMedSearch in Google Scholar
  • 4 Mortier GR, Cohn DH, Cormier-Daire V. et al. Nosology and classification of genetic skeletal disorders: 2019 revision. Am J Med Genet A 2019; 179 (12) 2393-2419
    CrossrefPubMedSearch in Google Scholar
  • 5 Orioli IM, Castilla EE, Barbosa-Neto JG. The birth prevalence rates for the skeletal dysplasias. J Med Genet 1986; 23 (04) 328-332
    CrossrefPubMedSearch in Google Scholar
  • 6 Andersen Jr PE, Hauge M. Congenital generalised bone dysplasias: a clinical, radiological, and epidemiological survey. J Med Genet 1989; 26 (01) 37-44
    CrossrefPubMedSearch in Google Scholar
  • 7 Bonafe L, Cormier-Daire V, Hall C. et al. Nosology and classification of genetic skeletal disorders: 2015 revision. Am J Med Genet A 2015; 167A (12) 2869-2892
    CrossrefPubMedSearch in Google Scholar
  • 8 Calder AD, Offiah AC. Foetal radiography for suspected skeletal dysplasia: technique, normal appearances, diagnostic approach. Pediatr Radiol 2015; 45 (04) 536-548
    CrossrefPubMedSearch in Google Scholar
  • 9 Chitty LS, Altman DG. Charts of fetal size: limb bones. BJOG 2002; 109 (08) 919-929
    CrossrefPubMedSearch in Google Scholar
  • 10 Olsen BR, Reginato AM, Wang W. Bone development. Annu Rev Cell Dev Biol 2000; 16: 191-220
    CrossrefPubMedSearch in Google Scholar
  • 11 van Zalen-Sprock RM, Brons JT, van Vugt JM, van der Harten HJ, van Geijn HP. Ultrasonographic and radiologic visualization of the developing embryonic skeleton. Ultrasound Obstet Gynecol 1997; 9 (06) 392-397
    CrossrefPubMedSearch in Google Scholar
  • 12 Altman DG, Chitty LS. Charts of fetal size: 1. Methodology. Br J Obstet Gynaecol 1994; 101 (01) 29-34
    Search in Google Scholar
  • 13 Exacoustos C, Rosati P, Rizzo G, Arduini D. Ultrasound measurements of fetal limb bones. Ultrasound Obstet Gynecol 1991; 1 (05) 325-330
    CrossrefPubMedSearch in Google Scholar
  • 14 Chitty LS, Altman DG, Henderson A, Campbell S. Charts of fetal size: 4. Femur length. Br J Obstet Gynaecol 1994; 101 (02) 132-135
    CrossrefPubMedSearch in Google Scholar
  • 15 Krakow D, Lachman RS, Rimoin DL. Guidelines for the prenatal diagnosis of fetal skeletal dysplasias. Genet Med 2009; 11 (02) 127-133
    CrossrefPubMedSearch in Google Scholar
  • 16 Pilu G, Nicolaides KH. Diagnosis of Fetal Abnormalities: The 18–23-Week Scan. Nashville, TN: Parthenon Publication Group; 1999
    Search in Google Scholar
  • 17 Yoshimura S, Masuzaki H, Gotoh H, Fukuda H, Ishimaru T. Ultrasonographic prediction of lethal pulmonary hypoplasia: comparison of eight different ultrasonographic parameters. Am J Obstet Gynecol 1996; 175 (02) 477-483
    CrossrefPubMedSearch in Google Scholar
  • 18 Rahemtullah A, McGillivray B, Wilson RD. Suspected skeletal dysplasias: femur length to abdominal circumference ratio can be used in ultrasonographic prediction of fetal outcome. Am J Obstet Gynecol 1997; 177 (04) 864-869
    CrossrefPubMedSearch in Google Scholar
  • 19 Gaffney G, Manning N, Boyd PA, Rai V, Gould S, Chamberlain P. Prenatal sonographic diagnosis of skeletal dysplasias—a report of the diagnostic and prognostic accuracy in 35 cases. Prenat Diagn 1998; 18 (04) 357-362
    CrossrefPubMedSearch in Google Scholar
  • 20 Savarirayan R, Rossiter JP, Hoover-Fong JE. et al; Skeletal Dysplasia Management Consortium. Best practice guidelines regarding prenatal evaluation and delivery of patients with skeletal dysplasia. Am J Obstet Gynecol 2018; 219 (06) 545-562
    CrossrefPubMedSearch in Google Scholar
  • 21 Parilla BV, Leeth EA, Kambich MP, Chilis P, MacGregor SN. Antenatal detection of skeletal dysplasias. J Ultrasound Med 2003; 22 (03) 255-258 ; quiz 259–261
    CrossrefPubMedSearch in Google Scholar
  • 22 Doray B, Favre R, Viville B, Langer B, Dreyfus M, Stoll C. Prenatal sonographic diagnosis of skeletal dysplasias. A report of 47 cases. Ann Genet 2000; 43 (3-4): 163-169
    CrossrefPubMedSearch in Google Scholar
  • 23 Eckalbar WL, Fisher RE, Rawls A, Kusumi K. Scoliosis and segmentation defects of the vertebrae. Wiley Interdiscip Rev Dev Biol 2012; 1 (03) 401-423
    CrossrefPubMedSearch in Google Scholar
  • 24 Adler-Levy Y, Yagel S, Nadjari M, Bar-ziv Y, Simanovsky N, Hiller N. Use of low dose computed tomography with 3D reconstructions for the prenatal evaluation of suspected skeletal dysplasia. Isr Med Assoc J 2015; 17 (01) 42-46
    PubMedSearch in Google Scholar
  • 25 Victoria T, Epelman M, Bebbington M. et al. Low-dose fetal CT for evaluation of severe congenital skeletal anomalies: preliminary experience. Pediatr Radiol 2012; 42 (Suppl. 01) S142-S149
    CrossrefPubMedSearch in Google Scholar
  • 26 Victoria T, Zhu X, Lachman R. et al. What is new in prenatal skeletal dysplasias?. AJR Am J Roentgenol 2018; 210 (05) 1022-1033
    CrossrefPubMedSearch in Google Scholar
  • 27 Imai R, Miyazaki O, Horiuchi T. et al. Ultra-low-dose fetal CT with model-based iterative reconstruction: a prospective pilot study. AJR Am J Roentgenol 2017; 208 (06) 1365-1372
    CrossrefPubMedSearch in Google Scholar
  • 28 Cassart M, Massez A, Cos T. et al. Contribution of three-dimensional computed tomography in the assessment of fetal skeletal dysplasia. Ultrasound Obstet Gynecol 2007; 29 (05) 537-543
    CrossrefPubMedSearch in Google Scholar
  • 29 Ruano R, Molho M, Roume J, Ville Y. Prenatal diagnosis of fetal skeletal dysplasias by combining two-dimensional and three-dimensional ultrasound and intrauterine three-dimensional helical computer tomography. Ultrasound Obstet Gynecol 2004; 24 (02) 134-140
    CrossrefPubMedSearch in Google Scholar
  • 30 Miyazaki O, Nishimura G, Sago H, Horiuchi T, Hayashi S, Kosaki R. Prenatal diagnosis of fetal skeletal dysplasia with 3D CT. Pediatr Radiol 2012; 42 (07) 842-852
    CrossrefPubMedSearch in Google Scholar
  • 31 ACOG Committee Opinion #299: Guidelines for Diagnostic Imaging During Pregnancy. Obstet Gynecol 2004; 104 (03) 647
    CrossrefPubMedSearch in Google Scholar
  • 32 McCollough CH, Schueler BA, Atwell TD. et al. Radiation exposure and pregnancy: when should we be concerned?. Radiographics 2007; 27 (04) 909-917 ; discussion 917–918
    CrossrefPubMedSearch in Google Scholar
  • 33 Valentin J. Editorial: BACK TO BASICS. Ann ICRP 2000; 30 (01) iii-iv
    CrossrefPubMedSearch in Google Scholar
  • 34 Dighe M, Fligner C, Cheng E, Warren B, Dubinsky T. Fetal skeletal dysplasia: an approach to diagnosis with illustrative cases. Radiographics 2008; 28 (04) 1061-1077
    CrossrefPubMedSearch in Google Scholar
  • 35 Mazzanti L, Matteucci C, Scarano E, Tamburrino F, Ragni MC, Cicognani A. Auxological and anthropometric evaluation in skeletal dysplasias. J Endocrinol Invest 2010; 33 (6, Suppl): 19-25
    PubMedSearch in Google Scholar
  • 36 Kozlowski K. The radiographic clues in the diagnosis of bone dysplasias. Pediatr Radiol 1985; 15 (01) 1-3
    CrossrefPubMedSearch in Google Scholar
  • 37 Bellus GA, Hefferon TW, Ortiz de Luna RI. et al. Achondroplasia is defined by recurrent G380R mutations of FGFR3. Am J Hum Genet 1995; 56 (02) 368-373
    Search in Google Scholar
  • 38 Langer Jr LO, Baumann PA, Gorlin RJ. Achondroplasia. Am J Roentgenol Radium Ther Nucl Med 1967; 100 (01) 12-26
    CrossrefPubMedSearch in Google Scholar
  • 39 Bellus GA, McIntosh I, Smith EA. et al. A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia. Nat Genet 1995; 10 (03) 357-359
    CrossrefPubMedSearch in Google Scholar
  • 40 Song S-H, Balce GCE, Agashe MV. et al. New proposed clinico-radiologic and molecular criteria in hypochondroplasia: FGFR 3 gene mutations are not the only cause of hypochondroplasia. Am J Med Genet A 2012; 158A (10) 2456-2462
    CrossrefPubMedSearch in Google Scholar
  • 41 Bober MB, Bellus GA, Nikkel SM, Tiller GE. Hypochondroplasia. In: Adam MP, Ardinger HH, Pagon RA. et al., eds. GeneReviews. University of Washington; Seattle: 1993. www.ncbi.nlm.nih.gov/books/NBK1477/ . Accessed November 26, 2020
    Search in Google Scholar
  • 42 Hall BD, Spranger J. Hypochondroplasia: clinical and radiological aspects in 39 cases. Radiology 1979; 133 (01) 95-100
    CrossrefPubMedSearch in Google Scholar
  • 43 Polymeropoulos MH, Ide SE, Wright M. et al. The gene for the Ellis-van Creveld syndrome is located on chromosome 4p16. Genomics 1996; 35 (01) 1-5
    CrossrefPubMedSearch in Google Scholar
  • 44 Ruiz-Perez VL, Ide SE, Strom TM. et al. Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. Nat Genet 2000; 24 (03) 283-286
    CrossrefPubMedSearch in Google Scholar
  • 45 Hills CB, Kochilas L, Schimmenti LA, Moller JH. Ellis-van Creveld syndrome and congenital heart defects: presentation of an additional 32 cases. Pediatr Cardiol 2011; 32 (07) 977-982
    CrossrefPubMedSearch in Google Scholar
  • 46 Rudnik-Schöneborn S, Zerres K, Graul-Neumann L, Wiegand S, Mellerowicz H, Hehr U. Two adult patients with Ellis-van Creveld syndrome extending the clinical spectrum. Mol Syndromol 2011; 1 (06) 301-306
    CrossrefPubMedSearch in Google Scholar
  • 47 Happle R, Matthiass HH, Macher E. Sex-linked chondrodysplasia punctata?. Clin Genet 1977; 11 (01) 73-76
    CrossrefPubMedSearch in Google Scholar
  • 48 Manzke H, Christophers E, Wiedemann HR. Dominant sex-linked inherited chondrodysplasia punctata: a distinct type of chondrodysplasia punctata. Clin Genet 1980; 17 (02) 97-107
    CrossrefPubMedSearch in Google Scholar
  • 49 Wanders RJA, Waterham HR. Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders. Clin Genet 2005; 67 (02) 107-133
    CrossrefPubMedSearch in Google Scholar
  • 50 Zizka J, Charvat J, Baxova A, Balicek P, Kozlowski K. Brachytelephalangic chondrodysplasia punctata with distinctive phenotype and normal karyotype. Am J Med Genet 1998; 76 (03) 213-216
    CrossrefPubMedSearch in Google Scholar
  • 51 Shanske AL, Bernstein L, Herzog R. Chondrodysplasia punctata and maternal autoimmune disease: a new case and review of the literature. Pediatrics 2007; 120 (02) e436-e441
    CrossrefPubMedSearch in Google Scholar
  • 52 Anderson IJ, Goldberg RB, Marion RW, Upholt WB, Tsipouras P. Spondyloepiphyseal dysplasia congenita: genetic linkage to type II collagen (COL2AI). Am J Hum Genet 1990; 46 (05) 896-901
    PubMedSearch in Google Scholar
  • 53 Veeravagu A, Lad SP, Camara-Quintana JQ, Jiang B, Shuer L. Neurosurgical interventions for spondyloepiphyseal dysplasia congenita: clinical presentation and assessment of the literature. World Neurosurg 2013; 80 (3–4): 437.e1-437.e8
    CrossrefPubMedSearch in Google Scholar
  • 54 MacKenzie JJ, Fitzpatrick J, Babyn P. et al. X linked spondyloepiphyseal dysplasia: a clinical, radiological, and molecular study of a large kindred. J Med Genet 1996; 33 (10) 823-828
    CrossrefPubMedSearch in Google Scholar
  • 55 Leroy JG, Leroy BP, Emmery LV, Messiaen L, Spranger JW. A new type of autosomal recessive spondyloepiphyseal dysplasia tarda. Am J Med Genet A 2004; 125A (01) 49-56
    CrossrefPubMedSearch in Google Scholar
  • 56 Wilkin DJ, Artz AS, South S. et al. Small deletions in the type II collagen triple helix produce Kniest dysplasia. Am J Med Genet 1999; 85 (02) 105-112
    CrossrefPubMedSearch in Google Scholar
  • 57 Subramanian S, Gamanagatti S, Sinha A, Sampangi R. Kniest syndrome. Indian Pediatr 2007; 44 (12) 931-933
    PubMedSearch in Google Scholar
  • 58 Borochowitz Z, Lachman R, Adomian GE, Spear G, Jones K, Rimoin DL. Achondrogenesis type I: delineation of further heterogeneity and identification of two distinct subgroups. J Pediatr 1988; 112 (01) 23-31
    CrossrefPubMedSearch in Google Scholar
  • 59 Langer Jr LO, Spranger JW, Greinacher I, Herdman RC. Thanatophoric dwarfism. A condition confused with achondroplasia in the neonate, with brief comments on achondrogenesis and homozygous achondroplasia. Radiology 1969; 92 (02) 285-294 , passim
    CrossrefPubMedSearch in Google Scholar
  • 60 Murray LW, Rimoin DL. Abnormal type II collagen in the spondyloepiphyseal dysplasias. Pathol Immunopathol Res 1988; 7 (1–2): 99-103
    CrossrefPubMedSearch in Google Scholar
  • 61 Tiller GE, Polumbo PA, Weis MA. et al. Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type. Nat Genet 1995; 11 (01) 87-89
    CrossrefPubMedSearch in Google Scholar
  • 62 Anderson CE, Sillence DO, Lachman RS. et al. Spondylometepiphyseal dysplasia, Strudwick type. Am J Med Genet 1982; 13 (03) 243-256
    CrossrefPubMedSearch in Google Scholar
  • 63 Briggs MD, Hoffman SM, King LM. et al. Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene. Nat Genet 1995; 10 (03) 330-336
    CrossrefPubMedSearch in Google Scholar
  • 64 Ramachandran G, Mason D. Double-layered patella: marker for multiple epiphyseal dysplasia. Am J Orthop 2004; 33 (01) 35-36
    PubMedSearch in Google Scholar
  • 65 Sheffield EG. Double-layered patella in multiple epiphyseal dysplasia: a valuable clue in the diagnosis. J Pediatr Orthop 1998; 18 (01) 123-128
    CrossrefPubMedSearch in Google Scholar
  • 66 Vatanavicharn N, Lachman RS, Rimoin DL. Multilayered patella: similar radiographic findings in pseudoachondroplasia and recessive multiple epiphyseal dysplasia. Am J Med Genet A 2008; 146A (13) 1682-1686
    CrossrefPubMedSearch in Google Scholar
  • 67 Briggs MD, Chapman KL. Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations. Hum Mutat 2002; 19 (05) 465-478
    CrossrefPubMedSearch in Google Scholar
  • 68 Lachman R, Martin KW, Castro S, Basto MA, Adams A, Teles EL. Radiologic and neuroradiologic findings in the mucopolysaccharidoses. J Pediatr Rehabil Med 2010; 3 (02) 109-118
    CrossrefPubMedSearch in Google Scholar
  • 69 Schroeder L, Orchard P, Whitley CB. et al. Cardiac ultrasound findings in infants with severe (Hurler phenotype) untreated mucopolysaccharidosis (MPS) type I. JIMD Rep 2013; 10: 87-94
    CrossrefPubMedSearch in Google Scholar
  • 70 Cleary MA, Wraith JE. The presenting features of mucopolysaccharidosis type IH (Hurler syndrome). Acta Paediatr 1995; 84 (03) 337-339
    CrossrefPubMedSearch in Google Scholar
  • 71 Montaño AM, Tomatsu S, Brusius A, Smith M, Orii T. Growth charts for patients affected with Morquio A disease. Am J Med Genet A 2008; 146A (10) 1286-1295
    CrossrefPubMedSearch in Google Scholar
  • 72 Hendriksz CJ, Harmatz P, Beck M. et al. Review of clinical presentation and diagnosis of mucopolysaccharidosis IVA. Mol Genet Metab 2013; 110 (1–2): 54-64
    CrossrefPubMedSearch in Google Scholar
  • 73 Hecht JT, Scott Jr CI, Smith TK, Williams JC. Mild manifestations of the Morquio syndrome. Am J Med Genet 1984; 18 (02) 369-371
    CrossrefPubMedSearch in Google Scholar
  • 74 Lachman RS, Burton BK, Clarke LA. et al. Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux-Lamy syndrome): under-recognized and challenging to diagnose. Skeletal Radiol 2014; 43 (03) 359-369
    CrossrefPubMedSearch in Google Scholar
  • 75 Gembruch U, Niesen M, Kehrberg H, Hansmann M. Diastrophic dysplasia: a specific prenatal diagnosis by ultrasound. Prenat Diagn 1988; 8 (07) 539-545
    CrossrefPubMedSearch in Google Scholar
  • 76 Rauch F, Glorieux FH. Osteogenesis imperfecta. Lancet 2004; 363 (9418): 1377-1385
    CrossrefPubMedSearch in Google Scholar
  • 77 Plotkin H. Syndromes with congenital brittle bones. BMC Pediatr 2004; 4 (01) 16
    CrossrefPubMedSearch in Google Scholar
  • 78 Vanhoenacker FM, De Beuckeleer LH, Van Hul W. et al. Sclerosing bone dysplasias: genetic and radioclinical features. Eur Radiol 2000; 10 (09) 1423-1433
    CrossrefPubMedSearch in Google Scholar
  • 79 Faden MA, Krakow D, Ezgu F, Rimoin DL, Lachman RS. The Erlenmeyer flask bone deformity in the skeletal dysplasias. Am J Med Genet A 2009; 149A (06) 1334-1345
    CrossrefPubMedSearch in Google Scholar
  • 80 Brueton LA, Winter RM. Craniodiaphyseal dysplasia. J Med Genet 1990; 27 (11) 701-706
    CrossrefPubMedSearch in Google Scholar
  • 81 Maroteaux P, Lamy M. Pyknodysostosis. [in French]. Presse Med 1962; 70: 999-1002
    PubMedSearch in Google Scholar
  • 82 Ihde LL, Forrester DM, Gottsegen CJ. et al. Sclerosing bone dysplasias: review and differentiation from other causes of osteosclerosis. Radiographics 2011; 31 (07) 1865-1882
    CrossrefPubMedSearch in Google Scholar
  • 83 Benli IT, Akalin S, Boysan E, Mumcu EF, Kiş M, Türkoğlu D. Epidemiological, clinical and radiological aspects of osteopoikilosis. J Bone Joint Surg Br 1992; 74 (04) 504-506
    CrossrefPubMedSearch in Google Scholar
  • 84 Bansal A. The dripping candle wax sign. Radiology 2008; 246 (02) 638-640
    CrossrefPubMedSearch in Google Scholar
  • 85 Goltz RW, Peterson WC, Gorlin RJ, Ravits HG. Focal dermal hypoplasia. Arch Dermatol 1962; 86 (06) 708-717
    CrossrefPubMedSearch in Google Scholar
  • 86 Behninger C, Rott HD. Osteopathia striata with cranial sclerosis: literature reappraisal argues for X-linked inheritance. Genet Couns 2000; 11 (02) 157-167
    PubMedSearch in Google Scholar
  • 87 Winter RM, Crawfurd Md'A, Meire HB, Mitchell N. Osteopathia striata with cranial sclerosis: highly variable expression within a family including cleft palate in two neonatal cases. Clin Genet 1980; 18 (06) 462-474
    CrossrefPubMedSearch in Google Scholar
  • 88 Janssens K, Vanhoenacker F, Bonduelle M. et al. Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment. J Med Genet 2006; 43 (01) 1-11
    CrossrefPubMedSearch in Google Scholar
  • 89 Pickering D, Cuddigan B. Infantile cortical hyperostosis associated with thrombocythaemia. Lancet 1969; 2 (7618): 464-465
    CrossrefPubMedSearch in Google Scholar