ASLI MEMİŞOĞLU, Öznur AYIK, Tuğba GÜRSOY, Fahri OVALI

Asfiktik torasik distrofi tamsı alan bir yenidoğan vaka sunumu

Asfiktik torasik distrofl otozomal resesif geçişli, başta iskelet sistemi olmak üzere birçok sistemi etkileyen nadir bir iskelet displazisidir. Sendromun en belirgin özellikleri, kısa kostalarla birlikte dar göğüs kafesi, mikromeli, multipl kıkırdak anomalileri ve rizomelik tipte kısa extremiteli cüceliktir. Ön arka ve transvers çapı daralmış çan şeklinde toraks pulmoner hipoplazinin derecesini belirler. Erken çocukluk döneminden sonra renal sorunlar ön plana geçer. Bu yazıda doğumda ciddi solunum sıkıntısı nedeniyle yenidoğan yoğun bakım ünitesine kabul edilip asfıktik torasik distrofl tanısı alan bir yenidoğan bebeğin özellikleri sunulmaktadır. Bu vaka nadir görülmesi ve yenidoğan döneminde klinik özellikleri ile tanı konulabilmesi nedeniyle vurgulanmak istenmiştir.

Anahtar Kelimeler:

Süt çocuğu, yenidoğan, hastalıklar, Jeune sendromu, Ellis-Van Creveld sendromu, Kemik hastalıkları, gelişimsel, Doğumsal anormallikler, Ölümle sonuçlanma, Anomaliler, çoklu

A neonate with asphyxiating thoracic dystrophy

Asphyxiating thoracic dystrophy is a rare autosomal recessive skeletal dysplasia which involves multiple organs especially skeletal system. The syndrome is characterized by a narrow chest with short ribs, micromelia, multiple cartilage anomalies and rhizomelic type dwarfism with short extremity. Bell shaped thorax with narrow anterior- posterior and transverse diameters determine the degree of pulmonary hypoplasia. Beyond early childhood period renal problems come into prominence. Here, a newborn who had respiratory distress at birth and hospitalised in NICU with the diagnosis of asphyxiating thoracic dystrophy is presented. This case was presented to emphasize as asphyxiating thoracic dystrophy is rare and the diagnose can be made with the characteristic features in neonatal period.

Keywords:

Infant, Newborn, Diseases, Jeune syndrome, Ellis-Van Creveld Syndrome, Bone Diseases, Developmental, Congenital Abnormalities, Fatal Outcome, Abnormalities, Multiple,

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