Diagnostic criteria in Pai syndrome: results of a case series and a literature review.
@article{Morice2019DiagnosticCI, title={Diagnostic criteria in Pai syndrome: results of a case series and a literature review.}, author={A. Morice and E. Galliani and J. Amiel and Martin Rachwalski and C. Neiva and C. Thauvin-Robinet and M. Vazquez and A. Picard and N. Kadlub}, journal={International journal of oral and maxillofacial surgery}, year={2019}, volume={48 3}, pages={ 283-290 } }
Pai syndrome was originally described as the association of a midline cleft lip, midline facial polyps, and lipoma of the central nervous system. However, only a few patients present with the full triad, and most exhibit a wide spectrum of phenotypic variability. The aim of this study was to phenotypically delineate Pai syndrome and to propose new criteria to facilitate a clinical diagnosis in the future. The study cohort consisted of seven case patients and an additional 60 cases diagnosed… CONTINUE READING
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References
SHOWING 1-10 OF 33 REFERENCES
Ophthalmic abnormalities of Pai syndrome: A case report and review of literature
- Medicine
- Ophthalmic genetics
- 2018
- 2
Pai syndrome: first patient with agenesis of the corpus callosum and literature review.
- Medicine
- Birth defects research. Part A, Clinical and molecular teratology
- 2007
- 18
Pai syndrome: a further report of a case with bifid nose, lipoma, and agenesis of the corpus callosum
- Medicine
- Child's Nervous System
- 2008
- 15
Phenotypic variability of Pai syndrome: report of two patients and review of the literature.
- Medicine
- International journal of oral and maxillofacial surgery
- 2008
- 12
Atypical findings in three patients with Pai syndrome and literature review
- Medicine
- American journal of medical genetics. Part A
- 2012
- 15
Pai syndrome: Report of seven South American patients
- Medicine
- American journal of medical genetics. Part A
- 2007
- 23
Pai syndrome: first reported case in Qatar and review of literature of previously published cases
- Medicine
- BMJ Case Reports
- 2012
- 7
Nasal septal lipoma in a child: Pai syndrome or not?
- Medicine
- International journal of pediatric otorhinolaryngology
- 2014
- 8
[Pai syndrome: Two new cases with unusual manifestations].
- Medicine
- Archivos argentinos de pediatria
- 2018
- 2