Craniofacial Anthropometry in Escobar Syndrome in a Sample of Egyptians | ||
| مجلة الدراسات الأفريقية | ||
| Volume 44, Issue 1 - Serial Number 51, January 2022, Pages 293-304 PDF (1.01 M) | ||
| Document Type: Research Article | ||
| DOI: 10.21608/mafs.2022.241245 | ||
| Authors | ||
| I.M. Noureldin1; N.A. Fakhry2; M.S. Aglan1; T.M. Abdelwahab3; E.H. Aboul- Ezz3; S. El-Hadidy1; S.A. Temtamy1 | ||
| 1National Research Centre | ||
| 2Faculty of African Postgraduate Studies | ||
| 3National Research Centre, | ||
| Abstract | ||
| Multiple pterygium syndromes (MPSs) are phenotypically and genetically heterogeneous syndromes that can be broadly divided into lethal form, and nonlethal form which is Escobar syndrome. It is caused by mutations in the CHRNG gene provides instructions for part of the acetylcholine receptor (AChR) protein found in skeletal muscle cells and is critical for signaling between nerve and muscle cells which is necessary for movement. Clinical, genetical, facial and oro-dental manifestations were preciously observed and recorded for Escobar patients. Craniofacial anthropometric data was summarized using mean and standard deviation for quantitative variables and comparisons between patient and normal groups were done using unpaired t test. P-values less than 0.05 were considered as statistically significant. | ||
| Keywords | ||
| Craniofacial; Anthropometry; Escobar syndrome; dysmorphic syndrome; Consanguinity | ||
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