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January 1991, Vol 145, No. 1 >
Article | January 1991

Neural Arch Stenosis and Spinal Cord Injury in Thanatophoric Dysplasia FREE

Ona Marie Faye-Petersen, MD; A. S. Knisely, MD
[+] Author Affiliations

Accepted for publication June 18,1990.

Reprint requests to Department of Pathology, Children's Hospital of Pittsburgh, One Children's Pl, Pittsburgh, PA 15213-3417 (Dr Knisely).


Am J Dis Child. 1991;145(1):87-89. doi:10.1001/archpedi.1991.02160010093023.
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• Bony abnormalities caused by thanatophoric dysplasia affect the base of the skull and the vertebrae as well as the ribs and appendicular long bones. We present our findings in a full-term infant with thanatophoric dysplasia in whom the posterior fossa, the rostral vertebral column, and the neuraxis at and adjoining the craniovertebral junction were studied by dissection, roentgenography, and histologic examination. In this infant, malformations of the vertebral laminae, most prominent in the basiocciput and atlas vertebra, led to compression of the rostral cervical spinal cord, causing gliosis and focal necrosis. Stenosis of the foramen magnum and spinal canal may contribute to the ventilatory insufficiency that often causes death in patients with thanatophoric dysplasia. We suggest that the causes of death in patients with thanatophoric dysplasia and other severe forms of osteochondrodysplasia should be sought in neuraxial injury rather than attributed solely to pulmonary hypoplasia.

(AJDC. 1991;145:87-89)

REFERENCES

1 +
Jones KL. Smith's Recognizable Patterns of Human Malformation . 4th ed. Philadelphia, Pa: WB Saunders Co; 1988;:290-291.
2 +
Potter EL, Craig JM. Pathology of the Fetus and the Infant . 3rd ed. Chicago, Ill: Year Book Medical Publishers Inc; 1975;:552-554.
3 +
Marin-Padilla M, Marin-Padilla TM.  Developmental abnormalities of the occipital bone in human chondrodystrophies (achondroplasia and thanatophoric dwarfism) . In: Bergsma D, Lowry RB, Gorlin RJ, Doran TA, Paul NW, eds. Embryology and Pathogenesis and Prenatal Diagnosis: Part D of Annual Review of Birth Defects, 1976 . New York, NY: Alan R Liss Inc; 1977;;13:7-23.
4 +
Horton WA, Hood OJ, Machado MA, Ahmed S, Griffey ES.  Abnormal ossification in thanatophoric dysplasia . Bone . 1988;;9:53-61.
5 +
Knisely AS, Ambler MW.  Temporal-lobe abnormalities in thanatophoric dysplasia . Pediatr Neurosci . 1988;;14:169-177.
6 +
Knisely AS, Singer DB.  A technique for necropsy evaluation of stenosis of the foramen magnum and rostral spinal canal in osteochondrodysplasia . Hum Pathol . 1988;;19:1372-1375.
7 +
Gruenwald P, Minh HN.  Evaluation of body and organ weights in perinatal pathology, I: normal standards derived from autopsies . Am J Clin Pathol . 1960;;34:247-253.
8 +
Privat A.  Postnatal gliogenesis in the mammalian brain . Int Rev Cytol . 1975;;40:281-323.
9 +
Thompson BH, Parmley TH.  Obstetric features of thanatophoric dwarfism . Am J Obstet Gymecol . 1971;;109:396-401.
10 +
Tóth Z, Vachter J, Szeifert G, et al.  Antenatally diagnosed thanatophoric dysplasia . Acta Paediatr Hung . 1982;;23:423-430.
11 +
Pauli RM, Scott CI, Wassman ER Jr, et al.  Apnea and sudden unexpected death in infants with achondroplasia . J Pediatr . 1984;;104:342-348.
12 +
Knisely AS, Steigman CK.  Stenosis of the foramen magnum and rostral spinal canal, with spinal cord deformity, in Jeune's asphyxiating thoracic dystrophy . Pediatr Pathol . 1989;;9:299-305.
13 +
Pauli RM, Gilbert EF.  Upper cervical cord compression as cause of death in osteogenesis imperfecta type II . J Pediatr . 1986;;108:579-581.
14 +
Reid CS, Pyeritz RE, Kopits SE, et al.  Cervicomedullary compression in young patients with achondroplasia: value of comprehensive neurologic and respiratory evaluation . J Pediatr . 1987;; 110:522-530.
15 +
MacDonald IM, Hunter AGW, MacLeod PM, MacMurray SB.  Growth and development in thanatophoric dysplasia . Am J Med Genet . 1989;;33:508-512.
16 +
Cunningham M, Stocks J.  Werdnig-Hoffmann disease: the effects of intrauterine onset on lung growth . Arch Dis Child . 1978;;53:921-925.
17 +
Wigglesworth JS, Desai R.  Effects on lung growth of cervical cord section in the rabbit fetus . Early Hum Dev . 1979;;3:51-65.
18 +
Shapiro JR, Burn VE, Chipman SD, et al.  Case report: pulmonary hypoplasia and osteogenesis imperfecta type II with defective synthesis of alpha I(1) procollagen . Bone . 1989;;10:165-171.

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References

1 +
Jones KL. Smith's Recognizable Patterns of Human Malformation . 4th ed. Philadelphia, Pa: WB Saunders Co; 1988;:290-291.
2 +
Potter EL, Craig JM. Pathology of the Fetus and the Infant . 3rd ed. Chicago, Ill: Year Book Medical Publishers Inc; 1975;:552-554.
3 +
Marin-Padilla M, Marin-Padilla TM.  Developmental abnormalities of the occipital bone in human chondrodystrophies (achondroplasia and thanatophoric dwarfism) . In: Bergsma D, Lowry RB, Gorlin RJ, Doran TA, Paul NW, eds. Embryology and Pathogenesis and Prenatal Diagnosis: Part D of Annual Review of Birth Defects, 1976 . New York, NY: Alan R Liss Inc; 1977;;13:7-23.
4 +
Horton WA, Hood OJ, Machado MA, Ahmed S, Griffey ES.  Abnormal ossification in thanatophoric dysplasia . Bone . 1988;;9:53-61.
5 +
Knisely AS, Ambler MW.  Temporal-lobe abnormalities in thanatophoric dysplasia . Pediatr Neurosci . 1988;;14:169-177.
6 +
Knisely AS, Singer DB.  A technique for necropsy evaluation of stenosis of the foramen magnum and rostral spinal canal in osteochondrodysplasia . Hum Pathol . 1988;;19:1372-1375.
7 +
Gruenwald P, Minh HN.  Evaluation of body and organ weights in perinatal pathology, I: normal standards derived from autopsies . Am J Clin Pathol . 1960;;34:247-253.
8 +
Privat A.  Postnatal gliogenesis in the mammalian brain . Int Rev Cytol . 1975;;40:281-323.
9 +
Thompson BH, Parmley TH.  Obstetric features of thanatophoric dwarfism . Am J Obstet Gymecol . 1971;;109:396-401.
10 +
Tóth Z, Vachter J, Szeifert G, et al.  Antenatally diagnosed thanatophoric dysplasia . Acta Paediatr Hung . 1982;;23:423-430.
11 +
Pauli RM, Scott CI, Wassman ER Jr, et al.  Apnea and sudden unexpected death in infants with achondroplasia . J Pediatr . 1984;;104:342-348.
12 +
Knisely AS, Steigman CK.  Stenosis of the foramen magnum and rostral spinal canal, with spinal cord deformity, in Jeune's asphyxiating thoracic dystrophy . Pediatr Pathol . 1989;;9:299-305.
13 +
Pauli RM, Gilbert EF.  Upper cervical cord compression as cause of death in osteogenesis imperfecta type II . J Pediatr . 1986;;108:579-581.
14 +
Reid CS, Pyeritz RE, Kopits SE, et al.  Cervicomedullary compression in young patients with achondroplasia: value of comprehensive neurologic and respiratory evaluation . J Pediatr . 1987;; 110:522-530.
15 +
MacDonald IM, Hunter AGW, MacLeod PM, MacMurray SB.  Growth and development in thanatophoric dysplasia . Am J Med Genet . 1989;;33:508-512.
16 +
Cunningham M, Stocks J.  Werdnig-Hoffmann disease: the effects of intrauterine onset on lung growth . Arch Dis Child . 1978;;53:921-925.
17 +
Wigglesworth JS, Desai R.  Effects on lung growth of cervical cord section in the rabbit fetus . Early Hum Dev . 1979;;3:51-65.
18 +
Shapiro JR, Burn VE, Chipman SD, et al.  Case report: pulmonary hypoplasia and osteogenesis imperfecta type II with defective synthesis of alpha I(1) procollagen . Bone . 1989;;10:165-171.

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