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Respiratory complications in children with spondyloepiphyseal dysplasia congenita
Cary O. Harding MD,
Christopher G. Green MD,
William H. Perloff Md, Phd,
Richard M. Pauli Md, Phd,
Cary O. Harding MD
Departments of Pediatrics, University of Wisconsin-Madison, Madison, Wisconsin
Search for more papers by this authorChristopher G. Green MD
Departments of Pediatrics, University of Wisconsin-Madison, Madison, Wisconsin
Search for more papers by this authorWilliam H. Perloff Md, Phd
Departments of Pediatrics, University of Wisconsin-Madison, Madison, Wisconsin
Search for more papers by this authorCorresponding Author
Richard M. Pauli Md, Phd
Departments of Pediatrics, University of Wisconsin-Madison, Madison, Wisconsin
Medical Genetics, University of Wisconsin-Madison, Madison, Wisconsin
Clinical Genetics Center, 1500 Highland Avenue, Room 353, University of Wisconsin, Madison, WI 53705Search for more papers by this authorCary O. Harding MD,
Christopher G. Green MD,
William H. Perloff Md, Phd,
Richard M. Pauli Md, Phd,
Cary O. Harding MD
Departments of Pediatrics, University of Wisconsin-Madison, Madison, Wisconsin
Search for more papers by this authorChristopher G. Green MD
Departments of Pediatrics, University of Wisconsin-Madison, Madison, Wisconsin
Search for more papers by this authorWilliam H. Perloff Md, Phd
Departments of Pediatrics, University of Wisconsin-Madison, Madison, Wisconsin
Search for more papers by this authorCorresponding Author
Richard M. Pauli Md, Phd
Departments of Pediatrics, University of Wisconsin-Madison, Madison, Wisconsin
Medical Genetics, University of Wisconsin-Madison, Madison, Wisconsin
Clinical Genetics Center, 1500 Highland Avenue, Room 353, University of Wisconsin, Madison, WI 53705Search for more papers by this authorAbstract
Mild respiratory distress at birth is a common occurrence in infants with spondyloepiphyseal dysplasia congenita (SEDC) while severe repiratory insufficency and death have been reported only rarely. We describe three infants with SEDC who experienced severe respiratory complications and required tracheostomies. Two of these infants have also needed long-term continuous positive airway pressure to maintain adequate ventilation. The features and clinical course of these children are described, previous reports of respiratory complications in SEDC are summarized, mechanisms resulting in respiratory problems in SEDC are postulated, and comparison is made with mechanisms giving rise to respiratory risks in other skeletal dysplasias. Pediatr Pulmonol 1990; 9:49–54.
References
- 1 Spranger J., Wiedemann HR Dysplasia spondyloepiphysaria congenita. Helv Paediatr Acta. 1966; 21: 598–611.
- 2 Horton WA, Hall JG, Scott CI, Pyeritz RE, Rimoin DL Growth curves for height for diastrophic dysplasia, spondyloepiphyseal dysplasia congenita, and pseudoachondroplasia. Am J Dis Child. 1982; 136: 316–319.
- 3 Feingold M., Bossert WH Normal values for selected physical parameters: An aid to syndrome delineation. Birth Defects. 1974; 10 (13).
- 4 Macpherson RI, Wood BP Spondyloepiphyseal dysplasia congenita: A cause of lethal neonatal dwarfism. Pediatr Radiol. 1980; 9: 217–224.
- 5 Borochowitz Z., Ornoy A, Lachman R, Rimoin DL Achondrogenesis II–hypochondrogenesis: Variability versus heterogeneity. Am J Med Genet. 1986; 24: 273–288.
- 6 Maroteaux P., Stanescu V, Stanescu R. Hypochondrogenesis. Eur J Pediatr. 1983; 141: 14–22.
- 7 Naumoff P. Thoracic dysplasia in spondyloepiphyseal dysplasia congenita. Am J Dis Child. 1977; 131: 653–654.
- 8 Yang SS, Chen H, Williams P, Cacciarelli A, Misra RP, Bernstein J. Spondyloepiphyseal dysplasia congenita: A comparative study of chondrocytic inclusions. Arch Pathol Lab Med. 1980; 104: 208–211.
- 9 Murray TG, Green WR, Maumenee IH, Kopits SE Spondyloepiphyseal dysplasia congenita: Light and electron microscopic studies of the eye. Arch Ophthalmol. 1985; 103: 407–411.
- 10 Horton WA, Chou JW, Machado MA Cartilage collagen analysis in the chondrodystrophies. Coll Relat Res. 1985; 5: 349–354.
- 11 Murray LW, Rimoin DL Abnormal type II collagen in the spondyloepiphyseal dysplasias. Pathol Immunopathol Res. 1988; 7: 99–103.
- 12 Lee B., Vissing H, Ramirez F, Rogers D, Rimoin D. Identification of the molecular defect in a family with spondyloepiphyseal dysplasia. Science. 1989; 244: 978–980.
- 13 Spranger J. Bone dysplasia “families.” Pathol Immunopathol Res. 1988; 7: 76–80.
- 14 Maroteaux P., Stanescu V, Stanescu R. The lethal chondrodysplasias. Clin Orthop. 1976; 114: 31–45.
- 15 Chen H., Liu CT, Yang SS Achondrogenesis: A review with special consideration of achondrogenesis type II (Langer-Saldino). Am J Med Genet. 1981; 10: 379–394.
- 16 Eyre DR, Muir H. The distribution of different molecular species of collagen in fibrous, elastic and hyaline cartilages of the pig. Biochem J. 1975; 151: 595–602.
- 17 Dessau W., von der Mark H, von der Mark K, Fischer S. Changes in the patterns of collagens and fibronectin during limb-bud chondrogenesis. J Embryol Exp Morphol 1980; 57: 51–60.
- 18 Langer LO Thoracic-pelvic-phalangeal dystrophy. Radiology. 1968; 91: 447–466.
- 19 Hull D., Barnes ND Children with small chests. Arch Dis Child. 1972; 47: 12–19.
- 20 Finegold MJ, Katzew H, Genieser NB, Becker MH Lung structure in thoracic dystrophy. Am J Dis Child. 1971; 122: 153–159.
- 21 Wiebicke W., Pasterkamp H. Long-term continuous positive airway pressure in a child with asphyxiating thoracic dystrophy. Pediatr Pulmonol. 1988; 4: 54–58.
- 22 Isaacson G., Blakemore KJ, Chervenak FA Thanatophoric dysplasia with cloverleaf skull. Am J Dis Child. 1983; 137: 896–898.
- 23 Godfrey M., Keene DR, Blank E, Hori H, Sakai LY, Sherwin LA, Hollister DW Type II achondrogenesis-hypochondrogenesis: Morphologic and immunohistopathologic studies. Am J Hum Genet. 1988; 43: 894–903.
- 24 Reid CS, Pyeritz RE, Kopits SE, Maria BL, Wang H, McPherson RW, Hurko O, Phillips JA, Rosenbaum AE Cervicomedullary compression in young patients with achondroplasia: Value of comprehensive neurologic and respiratory evaluation. J Pediatr. 1987; 110: 522–530.
- 25 Stokes DC, Phillips JA, Leonard CO, Dorst JP, Kopits SE, Trojak JE, Brown DL Respiratory complications of achondroplasia. J Pediatr. 1983; 102: 534–541.
- 26 Pauli RM, Conroy MM, McLone DG, Langer LO, Nadich T, Franciosi R, Ratner IM, Copps SC Homozygous achondroplasia with survival beyond infancy. Am J Med Genet. 1983; 16: 459–473.
- 27 Saldino RM, Noonan CD Severe thoracic dystrophy with striking micromelia, abnormal osseous development, including the spine, and multiple visceral anomalies. Am J Roentgenol. 1972; 114: 257–263.
- 28 Spranger J., Langer LO, Weller MH, Herrmann J. Short rib-polydactyly syndromes and related conditions. Birth Defects. 1975; 10 (9): 117–123.
- 29 Houston CS, Opitz JM, Spranger JW, Macpherson RI, Reed MH, Gilbert EF, Herrmann J, Schinzel A. 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. 1983; 15: 3–28.
- 30 Blair NP, Albert DM, Liberfarb RM, Hirose T. Hereditary progressive arthro-ophthalmopathy of Stickler. Am J Ophthalmol. 1979; 88: 876–888.
- 31 Herrmann J., France TO, Spranger JW, Opitz JM, Wiffler C. The Stickler syndrome (hereditary arthro-ophthalmopathy). Birth Defects. 1975; 11 (2): 76–103.
- 32 Walker BA, Scott CI, Hall JG, Murdoch JL, McKusick VA Diastrophic dwarfism. Medicine. 1972; 51: 41–59.
- 33 Yang SS, Roskamp J, Liu CT, Frates R, Singer DB Two lethal chondrodysplasias with giant chondrocytes. Am J Med Genet. 1983; 15: 615–626.
- 34 Myer CM, Cotton RT Laryngotracheal stenosis in spondyloepiphyseal dysplasia. Laryngoscope. 1985; 95: 3–5.
- 35 Grad R., Sammut PH, Britton JR, Goodrich P, Hoyme HE, Dambro NN Bronchoscopic evaluation of airway obstruction in campomelic dysplasia. Pediatr Pulmonol. 1987; 3: 364–367.
- 36 Latta RJ, Graham CB, Aase J, Scham SM, Smith DW Larsen's syndrome: A skeletal dysplasia with multiple joint dislocations and unusual facies. J Pediatr. 1971; 78: 291–298.
- 37 Rock MJ, Green CG Pauli RM, Peters ME Tracheomalacia and bronchomalacia associated with Larsen syndrome. Pediatr Pulmonol. 1988; 5: 55–59.
- 38 Grundfast KM, Kanter R, Mumtaz A, Pollack M. Tracheomalacia in an infant with multiplex congenita (Larsen's syndrome). Ann Otol. 1981; 90: 303–306.
- 39 Pauli RM, Scott CI, Wassman ER, Gilbert EF, Leavitt LA, Verhoeve J, Hall JG, Partington MW, Jones KL, Sommer A, Feldman W, Langer LO, Rimoin DL, Hecht JT, Lebovitz R. Apnea and sudden unexpected death in infants with achondroplasia. J Pediatr. 1984; 104: 342–348.
- 40 Hecht JT, Horton WA, Butler IJ, Goldie WD, Miner ME, Shannon R, Pauli RM Foramen magnum stenosis in homozygous achondroplasia. Eur J Pediatr. 1986; 145: 545–547.
- 41 Micheli LJ, Hall JE, Watts HG Spinal instability in Larsen's syndrome. J Bone Joint Surg. 1976; 58A: 562–565.
- 42 Miz GS, Engler GL Atlanto-axial subluxation in Larsen's syndrome. Spine. 1987; 12: 411–412.
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