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Atlantoaxial Malformation in a 46,XY, 17q+ Child

Atlantoaxial Malformation in a 46,XY, 17q+ Child Abstract • A child with 46,XY, 17q+ chromosome aberration and unusual skeletal abnormalities had the presenting symptom of respiratory arrest after a fall and minor head trauma. He exhibited proportionate short stature, peculiar facies with antimongoloid slant, simian creases, postaxial hexadactyly, metatarsus adductus deformity, and anomalous penoscrotal configuration. Delayed speech and mild mental retardation were also present. Atlantoaxial dislocation secondary to odontoid process hypoplasia was demonstrated. Additional skeletal abnormalities included dysplastic changes in the first and fourth metacarpals, the middle phalanx of the second finger, and hypoplasia of the first metatarsal, with medial insertion of the great toe. Treatment consisted of halo jacket cast and fusion of the occiput to C1, C2, and C3. Early detection and preventive surgery for atlantoaxial dislocation is necessary to prevent neurological deficit and possibly death by respiratory failure. References 1. Todorov AB, Kopits SE, Udvarhelyi GB: Spinal cord involvement in heritable skeletal dysplasias . Acta Genet Med Gemellol 23:181-186, 1973. 2. Orye E, van Nevel C: Familial D/E translocation . Humangenetik 6:191-199, 1968. 3. Borgaonkar DS: Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies . Baltimore, Johns Hopkins University Press, 1975. 4. Borgaonkar DS, Bolling DR: Repository of Chromosomal Variants and Anomalies in Man , ed 2. Baltimore, Johns Hopkins University Press, 1976. 5. Borgaonkar DS: Autosomal abnormalities and the banding techniques , in Emery AEH (ed): Modern Trends in Human Genetics , ed 2. London, Butterworth & Co, 1975, pp 1-30. 6. McDougall JK, Elsevier SM, Kucherlapati RS, et al: Regional localization of human genes in virus-induced uncoiler regions . Birth Defects 11:202-204, 1975. 7. McKusick VA: Heritable Disorders of Connective Tissue . St Louis, CV Mosby Co, 1972, p 596. 8. Arbisser AI, Donnelly KA, Scott, CI, et al: Urine enzyme diagnosis in atypical keratan sulfate excreting mucopolysacchariduria, abstracted . Am J Human Genetics 27:14a, 1975. 9. Perovic MN, Kopits SE, Thompson RC: Radiological evaluation of the spinal cord in congenital atlanto-axial dislocation . Radiology 109:713-716, 1973.Crossref 10. Kopits SE, Lindstrom JA, McKusick VA: Pseudo-achondroplastic dysplasia: Pathodynamics and management . Birth Defects X( (12) ):341-352, 1974. 11. Lie SO, Siggers DC, Dorst JP, et al: Unusual multiple epiphyseal dysplasias . Birth Defects X( (12) ):165-185, 1974. 12. Naffah J, Taleb N: Deux nouveaux cas de syndrome de Dyggve-Melchior-Clausen avec hypoplasie de l'apophyse odontoide et compression spinale . Arch Friatr Ped 31:985-992, 1974. 13. Scott CI: Unusual facies, joint hypermobility, genital anomaly and short stature: A new dysmorphic syndrome . Birth Defects X( (12) ):240-246, 1971. 14. Lee FA, Donell ON, Gwinn JL: Radiographic findings in five cases of fucosidosis. Read before the 13th meeting of the European Society of Pediatric Radiology Stockholm, May 20-22, 1976. 15. Afshani E, Giadany B: Atlanto-axial dislocation in chodrodysplasia punctata . Radiology 102:399-401, 1972.Crossref 16. Winchester P, Grossman H, Lim WN, et al: A new acid mucopolysaccharidosis with skeletal deformities simulating rheumatoid arthritis . Am J Roentgenol 106:121-128, 1969.Crossref 17. Martel W, Tishler JM: Observations on the spine in mongoloidism . Am J Roentgenol 97:630-638, 1966.Crossref 18. Petersen DI, Bacchus H, Seaich L, et al: Myelopathy associated with Maroteaux-Lamy syndrome . Arch Neurol 32:127-129, 1975.Crossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Neurology American Medical Association

Atlantoaxial Malformation in a 46,XY, 17q+ Child

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Publisher
American Medical Association
Copyright
Copyright © 1978 American Medical Association. All Rights Reserved.
ISSN
0003-9942
eISSN
1538-3687
DOI
10.1001/archneur.1978.00500290063010
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Abstract

Abstract • A child with 46,XY, 17q+ chromosome aberration and unusual skeletal abnormalities had the presenting symptom of respiratory arrest after a fall and minor head trauma. He exhibited proportionate short stature, peculiar facies with antimongoloid slant, simian creases, postaxial hexadactyly, metatarsus adductus deformity, and anomalous penoscrotal configuration. Delayed speech and mild mental retardation were also present. Atlantoaxial dislocation secondary to odontoid process hypoplasia was demonstrated. Additional skeletal abnormalities included dysplastic changes in the first and fourth metacarpals, the middle phalanx of the second finger, and hypoplasia of the first metatarsal, with medial insertion of the great toe. Treatment consisted of halo jacket cast and fusion of the occiput to C1, C2, and C3. Early detection and preventive surgery for atlantoaxial dislocation is necessary to prevent neurological deficit and possibly death by respiratory failure. References 1. Todorov AB, Kopits SE, Udvarhelyi GB: Spinal cord involvement in heritable skeletal dysplasias . Acta Genet Med Gemellol 23:181-186, 1973. 2. Orye E, van Nevel C: Familial D/E translocation . Humangenetik 6:191-199, 1968. 3. Borgaonkar DS: Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies . Baltimore, Johns Hopkins University Press, 1975. 4. Borgaonkar DS, Bolling DR: Repository of Chromosomal Variants and Anomalies in Man , ed 2. Baltimore, Johns Hopkins University Press, 1976. 5. Borgaonkar DS: Autosomal abnormalities and the banding techniques , in Emery AEH (ed): Modern Trends in Human Genetics , ed 2. London, Butterworth & Co, 1975, pp 1-30. 6. McDougall JK, Elsevier SM, Kucherlapati RS, et al: Regional localization of human genes in virus-induced uncoiler regions . Birth Defects 11:202-204, 1975. 7. McKusick VA: Heritable Disorders of Connective Tissue . St Louis, CV Mosby Co, 1972, p 596. 8. Arbisser AI, Donnelly KA, Scott, CI, et al: Urine enzyme diagnosis in atypical keratan sulfate excreting mucopolysacchariduria, abstracted . Am J Human Genetics 27:14a, 1975. 9. Perovic MN, Kopits SE, Thompson RC: Radiological evaluation of the spinal cord in congenital atlanto-axial dislocation . Radiology 109:713-716, 1973.Crossref 10. Kopits SE, Lindstrom JA, McKusick VA: Pseudo-achondroplastic dysplasia: Pathodynamics and management . Birth Defects X( (12) ):341-352, 1974. 11. Lie SO, Siggers DC, Dorst JP, et al: Unusual multiple epiphyseal dysplasias . Birth Defects X( (12) ):165-185, 1974. 12. Naffah J, Taleb N: Deux nouveaux cas de syndrome de Dyggve-Melchior-Clausen avec hypoplasie de l'apophyse odontoide et compression spinale . Arch Friatr Ped 31:985-992, 1974. 13. Scott CI: Unusual facies, joint hypermobility, genital anomaly and short stature: A new dysmorphic syndrome . Birth Defects X( (12) ):240-246, 1971. 14. Lee FA, Donell ON, Gwinn JL: Radiographic findings in five cases of fucosidosis. Read before the 13th meeting of the European Society of Pediatric Radiology Stockholm, May 20-22, 1976. 15. Afshani E, Giadany B: Atlanto-axial dislocation in chodrodysplasia punctata . Radiology 102:399-401, 1972.Crossref 16. Winchester P, Grossman H, Lim WN, et al: A new acid mucopolysaccharidosis with skeletal deformities simulating rheumatoid arthritis . Am J Roentgenol 106:121-128, 1969.Crossref 17. Martel W, Tishler JM: Observations on the spine in mongoloidism . Am J Roentgenol 97:630-638, 1966.Crossref 18. Petersen DI, Bacchus H, Seaich L, et al: Myelopathy associated with Maroteaux-Lamy syndrome . Arch Neurol 32:127-129, 1975.Crossref

Journal

Archives of Neurology – American Medical Association

Published: May 1, 1978

References

  • Spinal cord involvement in heritable skeletal dysplasias
    Todorov AB, Kopits SE, Udvarhelyi GB
  • Familial D/E translocation
    Orye E, van Nevel C
  • Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies
    Borgaonkar DS
  • Repository of Chromosomal Variants and Anomalies in Man
    Borgaonkar DS, Bolling DR
  • Modern Trends in Human Genetics
    Borgaonkar DS
  • Regional localization of human genes in virus-induced uncoiler regions
    McDougall JK, Elsevier SM, Kucherlapati RS, et al
  • Heritable Disorders of Connective Tissue
    McKusick VA
  • Urine enzyme diagnosis in atypical keratan sulfate excreting mucopolysacchariduria, abstracted
    Arbisser AI, Donnelly KA, Scott, CI, et al
  • Radiological evaluation of the spinal cord in congenital atlanto-axial dislocation
    Perovic MN, Kopits SE, Thompson RC
  • Pseudo-achondroplastic dysplasia: Pathodynamics and management
    Kopits SE, Lindstrom JA, McKusick VA
  • Unusual multiple epiphyseal dysplasias
    Lie SO, Siggers DC, Dorst JP, et al
  • Deux nouveaux cas de syndrome de Dyggve-Melchior-Clausen avec hypoplasie de l'apophyse odontoide et compression spinale
    Naffah J, Taleb N
  • Unusual facies, joint hypermobility, genital anomaly and short stature: A new dysmorphic syndrome
    Scott CI
  • Atlanto-axial dislocation in chodrodysplasia punctata
    Afshani E, Giadany B
  • A new acid mucopolysaccharidosis with skeletal deformities simulating rheumatoid arthritis
    Winchester P, Grossman H, Lim WN, et al
  • Observations on the spine in mongoloidism
    Martel W, Tishler JM
  • Myelopathy associated with Maroteaux-Lamy syndrome
    Petersen DI, Bacchus H, Seaich L, et al