Yıl 2012, Cilt 4 , Sayı 1, Sayfalar 1 - 7 2012-02-29

Pycnodysostosis: Clinical and Radiological Features in Two New Egyptian Families

Ebtesam Abdalla [1] , Khaled Matrawy [2] , Yasser Shwel [3]


Background and Aims: Pycnodysostosis is a rare hereditary disorder, first described in 1962 by Maroteaux and Lamy. It is an autosomal recessive osteochondrodysplasia, characterized by short stature, osteosclerosis, acro-osteolysis, frequent fractures and skull deformities. Less than 200 patients have been reported worldwide since the first description of the phenotype in 1962, out of which only a few cases were reported from Egypt. The purpose of the article was to review the clinical and radiographic characteristics of pycnodysostosis based on some new Egyptian cases. Case Report: We present two Egyptian families with cases presenting very early in life. The patients showed distinctive clinical features and, in spite of the lack of history of frequent bone fractures, they were investigated through complete skeletal survey and CT skull. The detection of dense bones and certain characteristic radiological findings finally led to the diagnosis of pycnodysostosis. The article also reports some unusual findings including conductive hearing loss, radiological findings akin to Erlenmeyer-flask deformity and lack of marked bone fragility. Conclusion: We report here three pediatric cases affected with pycnodysostosis belonging to two Egyptian families. We describe the clinical findings, radiographic features and differential diagnosis of the studied cases. Our study strengthens the role of the radiological examination in reaching the definite diagnosis of pycnodysostosis.
pycnodysostosis
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Birincil Dil en
Bölüm Case Reports
Yazarlar

Yazar: Ebtesam Abdalla

Yazar: Khaled Matrawy

Yazar: Yasser Shwel

Tarihler

Yayımlanma Tarihi : 29 Şubat 2012

Bibtex @ { jps202151, journal = {Journal of Pediatric Sciences}, issn = {}, eissn = {1309-1247}, address = {}, publisher = {Bilal YILDIZ}, year = {2012}, volume = {4}, pages = {1 - 7}, doi = {10.17334/jps.76025}, title = {Pycnodysostosis: Clinical and Radiological Features in Two New Egyptian Families}, key = {cite}, author = {Abdalla, Ebtesam and Matrawy, Khaled and Shwel, Yasser} }
APA Abdalla, E , Matrawy, K , Shwel, Y . (2012). Pycnodysostosis: Clinical and Radiological Features in Two New Egyptian Families . Journal of Pediatric Sciences , 4 (1) , 1-7 . Retrieved from https://dergipark.org.tr/tr/pub/jps/issue/19085/202151
MLA Abdalla, E , Matrawy, K , Shwel, Y . "Pycnodysostosis: Clinical and Radiological Features in Two New Egyptian Families" . Journal of Pediatric Sciences 4 (2012 ): 1-7 <https://dergipark.org.tr/tr/pub/jps/issue/19085/202151>
Chicago Abdalla, E , Matrawy, K , Shwel, Y . "Pycnodysostosis: Clinical and Radiological Features in Two New Egyptian Families". Journal of Pediatric Sciences 4 (2012 ): 1-7
RIS TY - JOUR T1 - Pycnodysostosis: Clinical and Radiological Features in Two New Egyptian Families AU - Ebtesam Abdalla , Khaled Matrawy , Yasser Shwel Y1 - 2012 PY - 2012 N1 - DO - T2 - Journal of Pediatric Sciences JF - Journal JO - JOR SP - 1 EP - 7 VL - 4 IS - 1 SN - -1309-1247 M3 - UR - Y2 - 2021 ER -
EndNote %0 Journal of Pediatric Sciences Pycnodysostosis: Clinical and Radiological Features in Two New Egyptian Families %A Ebtesam Abdalla , Khaled Matrawy , Yasser Shwel %T Pycnodysostosis: Clinical and Radiological Features in Two New Egyptian Families %D 2012 %J Journal of Pediatric Sciences %P -1309-1247 %V 4 %N 1 %R %U
ISNAD Abdalla, Ebtesam , Matrawy, Khaled , Shwel, Yasser . "Pycnodysostosis: Clinical and Radiological Features in Two New Egyptian Families". Journal of Pediatric Sciences 4 / 1 (Şubat 2012): 1-7 .
AMA Abdalla E , Matrawy K , Shwel Y . Pycnodysostosis: Clinical and Radiological Features in Two New Egyptian Families. Journal of Pediatric Sciences. 2012; 4(1): 1-7.
Vancouver Abdalla E , Matrawy K , Shwel Y . Pycnodysostosis: Clinical and Radiological Features in Two New Egyptian Families. Journal of Pediatric Sciences. 2012; 4(1): 1-7.
IEEE E. Abdalla , K. Matrawy ve Y. Shwel , "Pycnodysostosis: Clinical and Radiological Features in Two New Egyptian Families", Journal of Pediatric Sciences, c. 4, sayı. 1, ss. 1-7, Şub. 2012, doi:10.17334/jps.76025