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本文2例独眼畸形患儿发生于同胞兄妹并伴有染色体异常,现报告如下。例1.男,第5胎。1983年4月生,足月顺产,出生时见前额正中独眼(见封4图5),哭声微弱,呼吸浅表,于出生后1小时呼吸心跳停止。查体:头发黑,后发际低,前额正中独眼,鼻呈圆柱形位于眼上方,一个鼻孔,鼻孔小仅容一探针,无鼻中隔,口形、口唇位置正常,两耳无畸形,两手握拳,指(趾)无畸形,阴茎小,两侧睾丸未触及。细胞遗传学检查:外周血淋巴细胞培养,染色体核型分析为46,XY。
Two cases of monocular malformations occurred in siblings and siblings with chromosomal abnormalities, are as follows. Example 1. Male, fifth child. Born in April 1983, full-term spontaneous birth, see the forehead during the birth of one-eyed (see seal 4 Figure 5), crying weak, shallow breathing, breathing 1 hour after birth to stop breathing. Physical examination: black hair, low after the hair, the forehead is one-eyed, nasal cylindrical located above the eye, a nostril, nostril small for only a probe, no nasal septum, mouth shape, lip position is normal, no deformity in both ears, , Refers to (toe) without deformity, small penis, both sides of the testes did not touch. Cytogenetic examination: peripheral blood lymphocyte culture, chromosome karyotype analysis of 46, XY.