Nurdan URAS, Evrim Alyamaç DİZDAR, Turan DERME, Halit HALİL, Şerife Suna OĞUZ

Pena-Shokeir Sendromu

Pena-Shokeir sendromu fetal akinezi, intrauterin gelişme geriliği, kas ve iskelet deformiteleri, fasiyal anomaliler, pulmoner hipoplazi, kısa umbilikal kord, polihidramniyos ile giden klinik bir fenotipdir. Bu makalede 35 haftalık doğan, prenatal ultrasonografisinde fetal hareketleri yavaş ve ekstremitelerinde deformite olan, postnatal muayenesinde multipl konjenital anomali tespit edilen Pena-Shokeir sendromu özellikleri gösteren bir vaka sunulmuştur.

Anahtar Kelimeler:

Pena-Shokeir sendrom, multipl konjenital anomaliler

A Case Of Pena-Shokeir Syndrome

Pena-Shokeir syndrome is characterised by fetal akinesia, intrauterine growth retardation, deformites of musculoskeletal system, facial anomalies, pulmonary hypoplasia, short umbilical cord and polyhydramnios. In this manuscript we reported a newborn case born at the 35th gestational weeks whose prenatal ultrasonography showed reduced fetal movements and multiple deformities of extremities. Physical examination showed multiple congenital anormalies congruent with features of Pena-Shokeir syndrome.

Keywords:

Pena Shokeir syndrome, multiple congenital anormalies,

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