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严重的黏多糖贮积症VII型病例中的宫内生长加速

Intrauterine growth acceleration in the case of a severe form of mucopolysaccharidosis type VII.

作者信息

Tokieda K, Morikawa Y, Natori M, Hayashida S, Mori K, Ikeda K

机构信息

Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.

出版信息

J Perinat Med. 1998;26(3):235-9.

PMID:9773386
Abstract

We describe a Japanese male infant with mucopoly-saccharidosis type VII (MPS VII) who was born at 32 weeks of gestation presenting as a non-immune hydrops fetalis. His birth weight was 2900 g (+4.1 SD), his birth length was 48 cm (+2.2 SD), and thoracic spine length was 9.5 cm (+2.7 SD) at birth. Ossification center was already discernible bilaterally in coracoid process and distal femur at birth. In eight newborn infants with fetal hydrops of various other etiologies born in our institution, birth length ranged from -0.2 to -1.5 SD and thoracic spine length ranged from +0.5 to -1.7 SD, and neither ossification center of coracoid process nor distal femur were visible. The above data indicate that hydrops fetalis form of MPS VII is associated with intrauterine growth acceleration accompanied by early bone maturation. This feature may be useful in differentiating MPS VII associated hydrops fetalis from those of other etiologies.

摘要

我们描述了一名患有VII型黏多糖贮积症(MPS VII)的日本男婴,他在孕32周时出生,表现为非免疫性胎儿水肿。他出生体重2900克(+4.1标准差),出生身长48厘米(+2.2标准差),出生时胸椎长度9.5厘米(+2.7标准差)。出生时双侧喙突和股骨远端的骨化中心已可辨认。在我们机构出生的其他各种病因导致胎儿水肿的八名新生儿中,出生身长范围为-0.2至-1.5标准差,胸椎长度范围为+0.5至-1.7标准差,喙突和股骨远端均未见骨化中心。上述数据表明,MPS VII的胎儿水肿形式与宫内生长加速及早期骨骼成熟有关。这一特征可能有助于将MPS VII相关的胎儿水肿与其他病因引起的胎儿水肿区分开来。

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