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Cryptophthalmia Syndrome with Laryngeal Atresia and Bilateral Renal Agenesis: A Case Report and a Review of the Literature
Author(s) -
MASHIMOTO Hideo,
IKEDA Takayoshi,
MATSUO Takeshi,
MAEDA Hiroshi,
SHIMOKAWA Isao,
FUJISHITA Hikaru
Publication year - 1987
Publication title -
congenital anomalies
Language(s) - English
Resource type - Journals
eISSN - 1741-4520
pISSN - 0914-3505
DOI - 10.1111/j.1741-4520.1987.tb00687.x
Subject(s) - medicine , agenesis , renal agenesis , anatomy , atresia , syndactyly , autopsy , cyst , surgery , kidney , pathology
An 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.