Abstract
Patients with spondylocostal dysostosis, spondylothoracic dysostosis and Jarclio-Lci'in syndrome present with variable associations of dysmorphic faciès, short neck, dwarfism and deformed trunk. We report on seven cases of spondylocostal dysostosis associated with rare forms of neural tube defects: three patients had segmentai spinal dysgenesis, two siblings had caudal regression syndrome, one case had diastematomyelia and one had anterior meningocele. Only fourteen cases of segmental spinal dysgenesis have been previously reported, none with spondylocostal dysgenesis. Our observation of three cases with both unusual entities suggests that the association may occur more often than suspected and may be substantially underdiagnosed. Animal models for costo-vertebral anomalies and for some forms of spina hifida exist and specific mutations have been associated with each. It is possible that genetic studies in humans with these unusual anomalies of ribs and spine could lead to a more precise delineation of the complex clinical entities and explain the timing of the developmental defects.
| Original language | English |
|---|---|
| Pages (from-to) | 43 |
| Number of pages | 1 |
| Journal | European Journal of Pediatric Surgery, Supplement |
| Volume | 7 |
| Issue number | 1 |
| Publication status | Published - 1997 |
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ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
Cite this
Segmental vertebral malformations with rare forms of neural tube defects. / Capra, V.; Palmicri, A.; Dt Marco, P.; Moroni, A.; Piatelli, G. L.; Btnir, J.; Fonäelli, M. P.; Tortori-Donati, P.; Aiidmissi, L.; Camal, A.
In: European Journal of Pediatric Surgery, Supplement, Vol. 7, No. 1, 1997, p. 43.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Segmental vertebral malformations with rare forms of neural tube defects
AU - Capra, V.
AU - Palmicri, A.
AU - Dt Marco, P.
AU - Moroni, A.
AU - Piatelli, G. L.
AU - Btnir, J.
AU - Fonäelli, M. P.
AU - Tortori-Donati, P.
AU - Aiidmissi, L.
AU - Camal, A.
PY - 1997
Y1 - 1997
N2 - Patients with spondylocostal dysostosis, spondylothoracic dysostosis and Jarclio-Lci'in syndrome present with variable associations of dysmorphic faciès, short neck, dwarfism and deformed trunk. We report on seven cases of spondylocostal dysostosis associated with rare forms of neural tube defects: three patients had segmentai spinal dysgenesis, two siblings had caudal regression syndrome, one case had diastematomyelia and one had anterior meningocele. Only fourteen cases of segmental spinal dysgenesis have been previously reported, none with spondylocostal dysgenesis. Our observation of three cases with both unusual entities suggests that the association may occur more often than suspected and may be substantially underdiagnosed. Animal models for costo-vertebral anomalies and for some forms of spina hifida exist and specific mutations have been associated with each. It is possible that genetic studies in humans with these unusual anomalies of ribs and spine could lead to a more precise delineation of the complex clinical entities and explain the timing of the developmental defects.
AB - Patients with spondylocostal dysostosis, spondylothoracic dysostosis and Jarclio-Lci'in syndrome present with variable associations of dysmorphic faciès, short neck, dwarfism and deformed trunk. We report on seven cases of spondylocostal dysostosis associated with rare forms of neural tube defects: three patients had segmentai spinal dysgenesis, two siblings had caudal regression syndrome, one case had diastematomyelia and one had anterior meningocele. Only fourteen cases of segmental spinal dysgenesis have been previously reported, none with spondylocostal dysgenesis. Our observation of three cases with both unusual entities suggests that the association may occur more often than suspected and may be substantially underdiagnosed. Animal models for costo-vertebral anomalies and for some forms of spina hifida exist and specific mutations have been associated with each. It is possible that genetic studies in humans with these unusual anomalies of ribs and spine could lead to a more precise delineation of the complex clinical entities and explain the timing of the developmental defects.
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UR - http://www.scopus.com/inward/citedby.url?scp=33748203292&partnerID=8YFLogxK
M3 - Article
AN - SCOPUS:33748203292
VL - 7
SP - 43
JO - European Journal of Pediatric Surgery, Supplement
JF - European Journal of Pediatric Surgery, Supplement
SN - 0939-6764
IS - 1
ER -