Pena-Shokeir fenotipi: Bir olgu sunumu
Öz
Özet
Pena-Shokeir fenotipi, multipl eklem kontraktürleri, yüz anomalileri ve pulmoner hipoplazi ile karakterize bir hastalıktır. Bu olguda mikrosefali, asimetrik yüz, mikrognati, kısa boyun, düşük retroverte kulak yapısı, kubbe damak, yüksek burun kökü, anteverte nostril, ellerde ulnar deviasyon, kamptodaktili, dirsekte fleksiyon kontraktürü, diz ve kalça eklemlerinde ankiloz, rocker bottom feet, club feet, vücut çizgilerinde silinme olan bir erkek hasta sunulmuştur.
Anahtar sözcükler: Pena-Shokeir, multipl eklem kontraktürü, fasial anomali, akciğer hipoplazisi
Abstract
Pena-Shokeir phenotype is characterized by multiple ankylosis, facial anomalies and, pulmonary hypoplasia In this case, a male patient with microcephaly, asymmetric face, micrognathia, short neck, low set and posteriorly angulated ears, high-arched palate, high nasal bridge, anteverte nostril, ulnar deviation of the hands, camptodactly, flexion contracture at elbow, ankylozis at hip and knee, rocker bottom feet, club feet, sparse absent dermal ridges is described.
Keywords: Pena-Shokeir, multiple joint contractures, facial anomalies, pulmonary hypoplasia
Anahtar Kelimeler
References
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Details
Primary Language
Turkish
Subjects
-
Journal Section
-
Authors
Hande Küçük Kurtulgan
Fatih Bolat
Gökay Göktolga
Şenol Çitli
Nejmiye Akkuş
İlhan Sezgin
Publication Date
December 21, 2012
Submission Date
November 25, 2011
Acceptance Date
-
Published in Issue
Year 2012 Volume: 34 Number: 4