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Cryptophthalmia Syndrome with Laryngeal Atresia and Bilateral Renal Agenesis: A Case Report and a Review of the Literature

 

作者: Hideo MASHIMOTO,   Takayoshi IKEDA,   Takeshi MATSUO,   Hiroshi MAEDA,   Isao SHIMOKAWA,   Hikaru FUJISHITA,  

 

期刊: Congenital Anomalies  （WILEY Available online 1987）
卷期: Volume 27, issue 1  

页码: 1-10

 

ISSN:0914-3505

 

年代: 1987

 

DOI:10.1111/j.1741-4520.1987.tb00687.x

 

出版商: Blackwell Publishing Ltd

 

关键词: cryptophthalmia syndrome;Fraser syndrome;Potter's syndrome;laryngeal atresia;renal agenesis;development of the lung;syndactyly;genital anomaly;autosomal recessive trait

 

数据来源: WILEY

 

摘要:

AbstractAn autopsy case of the unilateral cryptophthalmia syndrome was presented, showing the lack of the eyelids formation on the right and the facial skin being continuous over the right eye. Potter's face, partial cutaneous syndactyly, clitorial hypertrophy, bilateral renal agenesis and absence of uterus were associated, and further laryngeal atresia was noted, leaving a small posterior opening and allowing a survival of only 10 min at birth. Histologic analysis of the right eye revealed that the cyst in the anterior segment was formed by the destruction of the lens itself. The pathogenesis of cryptophthalmia and laryngeal atresia was discussed.

 

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