一例伴有全前脑畸形和积水性无脑畸形面部特征的部分14号染色体长臂缺失病例。

A case of partial 14q- with facial features of holoprosencephaly and hydranencephaly.

作者信息

Segawa Yoshie, Itokazu Naoya, Hirose Akiko, Nakagawa Shinichiro, Takashima Sachio

机构信息

Yanagawa Institute for Developmental Disabilities, Fukuoka, Japan.

出版信息

Pediatr Neurol. 2007 Jul;37(1):51-4. doi: 10.1016/j.pediatrneurol.2007.02.010.

DOI:10.1016/j.pediatrneurol.2007.02.010

PMID:17628223

Abstract

We report a rare case of facial features of holoprosencephaly associated with hydranencephaly, with a de novo proximal interstitial deletion of the long arm of chromosome 14, specifically, del(14)(q13q21). She was born at 37 weeks of gestation and transferred to our institution at 3 years of age. The patient had midline facial anomalies consisting of cleft palate, defective nasal septum, and hypotelorism, together with endocrine abnormalities such as diabetes insipidus and hypothyroidism. Cranial computed tomography revealed the near-total loss of all cerebral tissue, with a frontal part of the cerebral falx lacking. None of the few reports of holoprosencephaly with 14q- chromosomal abnormality describe holoprosencephaly in association with hydranencephaly. The partial deletion of chromosome 14, del(14)(q13q21), may underlie the association of facial features of holoprosencephaly and hydranencephaly.

摘要

我们报告了一例罕见的全前脑畸形面部特征合并积水性无脑畸形的病例，该病例存在14号染色体长臂近端间质性从头缺失，具体为del(14)(q13q21)。她在妊娠37周时出生，3岁时转诊至我院。患者存在中线面部异常，包括腭裂、鼻中隔缺损和眼距过窄，同时伴有尿崩症和甲状腺功能减退等内分泌异常。头颅计算机断层扫描显示几乎所有脑组织完全缺失，大脑镰前部缺失。少数关于14q染色体异常的全前脑畸形报告中，均未描述全前脑畸形合并积水性无脑畸形的情况。14号染色体的部分缺失，即del(14)(q13q21)，可能是全前脑畸形面部特征与积水性无脑畸形关联的基础。