Masuyama Tatsuo, Matsuo Muneaki, Kuno Tateo, Kitsuki Kyoko, Kan Yuka, Ishii Kiyohisa, Ohtani Yoshinobu
Department of Pediatrics, Saga Seishigakuen Handicapped Children's Hospital, Saga.
No To Hattatsu. 2003 Jan;35(1):49-53.
We report two unrelated cases of Costello syndrome, presenting with poor postnatal growth, mild mental retardation, poor feeding, curly hair, coarse characteristic face, loose skin, hypotonia, and cardiac involvement. Nasal papilloma and acanthosis nigricans were the most characteristic features of this syndrome. Both cases had atrial fibrilation from infancy to early childhood. One patient had hypertonia in the lower extremities and pes equinovarus, while the other had hypotonia and pes planovalgus.
我们报告了两例无关的科斯特洛综合征病例，表现为出生后生长发育迟缓、轻度智力障碍、喂养困难、卷发、特征性面容粗糙、皮肤松弛、肌张力减退以及心脏受累。鼻乳头状瘤和黑棘皮病是该综合征最具特征性的表现。两例患者从婴儿期到幼儿期均出现心房颤动。一名患者下肢肌张力亢进并伴有马蹄内翻足，而另一名患者则表现为肌张力减退和扁平外翻足。
