This premature infant case was presented as she had a rare disorder which can be diagnosed with typical features and few cases have been reported in the literature.
📌 3 Key Takeaways
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Objective & Hypothesis:Here, we present a 33-week-old infant with restrictive dermopathy (RD), a rare lethal genodermatosis, characterized by an abnormal skin growth and differentiation with thin, tightly adherent skin that causes a typical dysmorphic face, generalized flexion joint contractures, and respiratory insufficiency.
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Key Findings & Data:Here, we present a 33-week-old infant with restrictive dermopathy (RD), a rare lethal genodermatosis, characterized by an abnormal skin growth and differentiation with thin, tightly adherent skin that causes a typical dysmorphic face, generalized flexion joint contractures, and respiratory insufficiency.
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Conclusion & Impact:This premature infant case was presented as she had a rare disorder which can be diagnosed with typical features and few cases have been reported in the literature.
🔬Design:Makale
📍Scope:Comprehensive Sample
⚙️Variables:Süt çocuğu · yenidoğan · hastalıklar
Abstract
Here, we present a 33-week-old infant with restrictive dermopathy (RD), a rare lethal genodermatosis, characterized by an abnormal skin growth and differentiation with thin, tightly adherent skin that causes a typical dysmorphic face, generalized flexion joint contractures, and respiratory insufficiency. This premature infant case was presented as she had a rare disorder which can be diagnosed with typical features and few cases have been reported in the literature.
Özet
Yazıda nadir bir letal genodermatoz olan restriktif dermopatili (RD) 33 haftalık bir bebek sunulmaktadır. Bu sendrom tipik dismorfîk yüz görünümü, solunum yetmezliği, eklemlerde yaygın fleksiyon kontraktürleri ve ince, alttaki dokuya sıkıca yapışıklık gösteren, anormal büyüyen ve farklılaşan bir ciltle karakterizedir. Bu prematüre bebek, tipik bulgularıyla tanı konabilen nadir görülen bir hastalığı olduğu ve literatürde az sayıda yenidoğan vakası bildirildiği için sunulmuştur.
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