BOCHDALEK HERNIA IN CORNELIA DE LANGE SYNDROME WITH IMMUNOGLOBULIN SUBCLASS G<sub>3</sub> DEFICIENCY

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  • IgG<sub>3</sub>欠乏症を合併したCornelia de Lange症候群の1歳5カ月男児に発症したBochdalekヘルニアの1例

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Abstract

A male infant was born after a gestation period of 38 weeks and 2 days, with a birth weight of 2250g. Disphagia developed 12 days after birth. On the basis of distinctive facial features and deformities of the extremities, a diagnosis of Cornelia de Lange (CDL) syndrome was given. The patient had heavy development delay without repeat vomiting. At the age of 12 months, he contracted severe left pneumonia. At 17 months of age (with the weight of 5135g), he developed feeding difficulties, pallor, and abdominal concavity. Surgery was performed immediately through a left subcostal laparotomy. This case was of Bochdalek hernia developed afte the period of new-born baby, malrotation of the intestine was involved, and no peritoneal sac was found. This is the second case of CDL syndrome with Bochdalek hernia in Japan. This case was associated with Immunoglobulin subclass G3 deficiency. Patients with CDL syn-drome are highly susceptible to contagions, so this is a case history of great important.

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