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이기혁 ( Gi Hyuck Lee ),권민정 ( Min Jung Kwon ),성세인 ( Se In Sung ),최영배 ( Young Bae Choi ),김진규 ( Jin Kyu Kim ),유혜수 ( Hye Soo Yoo ),김은선 ( Eun Sun Kim ),기창석 ( Chang Seok Ki ),장윤실 ( Yun Sil Chang ),박원순 ( Won S 대한주산의학회 2011 Perinatology Vol.22 No.4
AEC syndrome (Ankyloblepharon-Ectodermal defects-Cleft lip/palate syndrome) is a rare disorder characterized by ankyloblepharon, ectodermal dysplasia and cleft lip or palate. This disease is inherited in an autosomal dominant pattern with variable expressivity, and mutations in the TP63 gene on chromosome 3q28 are the genetic basis. A 14-day-old Korean boy presented with coarse, sparse hair on his scalp, erosive dermatitis, nail dysplasia, and a cleft palate at birth. Direct sequence analysis of the entire coding region of the TP63 gene of this boy showed a missense mutation c.1739 C>T (p.Ser541Phe) in the sterile-alpha-motif (SAM) domain. Family study revealed that neither of the parents had the mutation, indicating the de novo occurrence of the mutation. This is the second Korean case report of a genetically confirmed as AEC syndrome.
미숙아에서 말초 유도 중심정맥관 삽입과 연관된 흉막삼출과 횡격막마비
장미선 ( Mi Sun Chang ),백상훈 ( Sang Hun Baek ),이명숙 ( Myung Sook Lee ),한영미 ( Young Mi Han ),성세인 ( Se In Sung ),유혜수 ( Hye Soo Yoo ),안소윤 ( So Yoon Ahn ),김은선 ( Eun Sun Kim ),장윤실 ( Yoon Sil Chang ),박원순 ( Won S 대한주산의학회 2012 Perinatology Vol.23 No.3
Pleural effusion and diaphragmatic palsy secondary to fluid extravasation after central line insertion in the neonate are rare complications. Here we report a case of right pleural effusion and diaphragmatic palsy caused by fluid extravasation associated with peripherally inserted central venous catheter in the preterm infant.