Hande KURTULGAN KÜÇÜK, Şenol ÇİTLİ, Nejmiye AKKUŞ, Gökay GÖKTOLGA, Fatih BOLAT, Gülseren GÖKTOLGA ERKOCA, İlhan SEZGİN

Pena-Shokeir fenotipi: Bir olgu sunumu

Pena-Shokeir fenotipi, multipl eklem kontraktürleri, yüz anomalileri ve pulmoner hipoplazi ilekarakterize bir hastalıktır. Bu olguda mikrosefali, asimetrik yüz, mikrognati, kısa boyun, düşükretroverte kulak yapısı, kubbe damak, yüksek burun kökü, anteverte nostril, ellerde ulnardeviasyon, kamptodaktili, dirsekte fleksiyon kontraktürü, diz ve kalça eklemlerinde ankiloz, rockerbottom feet, club feet, vücut çizgilerinde silinme olan bir erkek hasta sunulmuştur.

Pena-shokeir phenotype: A case report

Pena-Shokeir phenotype is characterized by multiple ankylosis, facial anomalies and, pulmonaryhypoplasia In this case, a male patient with microcephaly, asymmetric face, micrognathia, shortneck, low set and posteriorly angulated ears, high-arched palate, high nasal bridge, antevertenostril, ulnar deviation of the hands, camptodactly, flexion contracture at elbow, ankylozis at hipand knee, rocker bottom feet, club feet, sparse absent dermal ridges is described

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1. Pena SD, Shokeir MH. Syndrome of camptodactyly, multiple ankyloses, facial anomalies, and pulmonary hypoplasia: a lethal condition. J Pediatr 1974; 85: 373.
2. Jones KL. SMITH'S Recognizable Patterns of Human Malformation. 6th ed. Philadelphia: Elsevier, 2006; pp: 188.
3. Gyr T, Katz M, Altermatt HJ, Braga S, Duerig P, Koenig C, Schneider H. Lethal Pena-Shokeir 1 Syndrome in three male siblings. Arch Gynecol Obstet 1992; 251: 149; 54.
4. Enid Gilbert-Barness AO MD FRCPA FRCPath DSci(hc) MD(hc) (Editor), Raj P. Kapur MD PhD (Editor), Luc Laurier Oligny MSc MD (Editor), Joseph R. Siebert PHD (Editor)
5. Barness EG, Raj P. Kapur, Luc Laurier Oligny. Joseph R. Siebert (Eds). Potter's Pathology of the Fetus and Infant and Child. 2nd ed. Mosby, 1997; pp: 92-3.
6. Lavi E, Montone KT, Rorke LB, Kliman HJ. Fetal akinesia deformation sequence (Pena-Shokeir phenotype) associated with acquired intrauterine brain damage. Neurology 1991; 41: 1467-8.
7. Ajayi RA, Keen CE, Knott PD. Ultrasound diagnosis of the Pena Shokeir phenotype at 14 weeks of pregnancy. Prenat Diagn 1995; 15: 762-4.
8. Senocak EU, Oguz KK, Haliloglu G, Karcaaltincaba D, Akata D, Kandemir O. Prenatal diagnosis of Pena-Shokeir syndrome phenotype by ultrasonography and MR imaging. Pediatr Radiol 2009; 39: 377-80.
9. Gupta P, Sharma JB, Sharma R, Gadodia A, Kumar S, Roy KK. Antenatal ultrasound and MRI findings of Pena-Shokeir syndrome. Arch Gynecol Obstet 2011; 283: 27-9.