Novel spinal dysplasia in two generations

H. Anhalt, B. Parker, D. V. Paranjpe, E. K. Neely, F. N. Silverman, Ronald (Ron) Rosenfeld

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

We report on a father and son with a previously undescribed skeletal abnormality and severe short stature. Antenatal sonographic evaluation of the propositus (son), obtained due to maternal pre-eclampsia, suggested an abnormal spine. At birth, no congenital anomalies were noted and transition to extra-uterine life was smooth. Radiographs performed five days after birth showed spina bifida, hemivertebrae in the mid-thoracic region, and widened lumbar interpedicular distances. MRI of the lower thoracic and lumbar vertebrae documented crescent-shaped appearance of the affected vertebrae and abnormally narrow A-P diameter of the vertebral bodies. Intervertebral discs were small, and the posterior elements, as well as the spinous processes of the affected vertebrae, were markedly hypoplastic. However, there was no narrowness of the spinal canal, and the limbs were unaffected. CT scan with three-dimensional reformatting of the thoracic and lumbar vertebrae documented unusual sagittal clefting of all of the vertebral bodies, which has previously been undescribed. The father had severe kyphoscoliosis and a height of 131.6 cm (-7.5 S.D.). Radiographically, he was found to have multiple segmentation anomalies and diminished A-P diameter of his affected vertebral bodies. The multiple vertebral anomalies are the probable cause for the father's severe kyphoscoliosis. The pattern of inheritance suggests that an autosomal dominant gene is responsible for this condition and that the father represents a de novo mutation. These radiographic abnormalities have not been described previously and represent a new form of vertebral spinal dysplasia.

Original languageEnglish (US)
Pages (from-to)90-93
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume56
Issue number1
DOIs
StatePublished - 1995
Externally publishedYes

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Fathers
Thoracic Vertebrae
Lumbar Vertebrae
Spine
Nuclear Family
Parturition
Dominant Genes
Lumbosacral Region
Inheritance Patterns
Spinal Dysraphism
Spinal Canal
Intervertebral Disc
Pre-Eclampsia
Thorax
Extremities
Mothers
Mutation

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Anhalt, H., Parker, B., Paranjpe, D. V., Neely, E. K., Silverman, F. N., & Rosenfeld, R. R. (1995). Novel spinal dysplasia in two generations. American Journal of Medical Genetics, 56(1), 90-93. https://doi.org/10.1002/ajmg.1320560120

Novel spinal dysplasia in two generations. / Anhalt, H.; Parker, B.; Paranjpe, D. V.; Neely, E. K.; Silverman, F. N.; Rosenfeld, Ronald (Ron).

In: American Journal of Medical Genetics, Vol. 56, No. 1, 1995, p. 90-93.

Research output: Contribution to journalArticle

Anhalt, H, Parker, B, Paranjpe, DV, Neely, EK, Silverman, FN & Rosenfeld, RR 1995, 'Novel spinal dysplasia in two generations', American Journal of Medical Genetics, vol. 56, no. 1, pp. 90-93. https://doi.org/10.1002/ajmg.1320560120
Anhalt H, Parker B, Paranjpe DV, Neely EK, Silverman FN, Rosenfeld RR. Novel spinal dysplasia in two generations. American Journal of Medical Genetics. 1995;56(1):90-93. https://doi.org/10.1002/ajmg.1320560120
Anhalt, H. ; Parker, B. ; Paranjpe, D. V. ; Neely, E. K. ; Silverman, F. N. ; Rosenfeld, Ronald (Ron). / Novel spinal dysplasia in two generations. In: American Journal of Medical Genetics. 1995 ; Vol. 56, No. 1. pp. 90-93.
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