PDF(Pubmed)
Abstract：
UNASSIGNED: Microphthalmia is a rare autosomal recessive condition commonly known as Waardenburg anophthalmia syndrome (WAS) or oculo-acromal formation syndrome (MIM#206920).
UNASSIGNED: Here, we report the case of a woman whose fetal ultrasonography at 12 weeks of pregnancy revealed multiple fetal abnormalities. These included the absence of the left upper limb, an unclear display of the right orbit, a visible maxillary space, and a round, echoless appearance measuring 4 mm in diameter in the middle of the forehead. There was also a significant echo in the sac wall. The possibility of a frontal meningocele or a proboscis-like nose was considered. The fetus was delivered with absence of the left upper limb, absence of the right eye, a cleft lip on the right side, and a milky white sac with a diameter of 5 mm on the forehead after the pregnancy was terminated at the hospital. Pathological investigation revealed a mature cystic teratoma. The conclusion was microphthalmia with limb anomalies (MLA) after missing limbs, absence of eyes, and cleft lip were input into the Online Mendelian Inheritance in Man database. The case was diagnosed with fetal microphthalmia with limb anomalies and an interfrontal teratoma.
UNASSIGNED: In this case, the entire exon analysis was not conducted, and as a result, the final diagnosis remains unclear. Based exclusively on the phenotype of the induced fetus, MLA was diagnosed. It is proposed that cases satisfying the requirements for a pathological diagnosis should undergo a pathological examination to establish a definitive diagnosis.
UNASSIGNED: Here, we report the case of a woman whose fetal ultrasonography at 12 weeks of pregnancy revealed multiple fetal abnormalities. These included the absence of the left upper limb, an unclear display of the right orbit, a visible maxillary space, and a round, echoless appearance measuring 4 mm in diameter in the middle of the forehead. There was also a significant echo in the sac wall. The possibility of a frontal meningocele or a proboscis-like nose was considered. The fetus was delivered with absence of the left upper limb, absence of the right eye, a cleft lip on the right side, and a milky white sac with a diameter of 5 mm on the forehead after the pregnancy was terminated at the hospital. Pathological investigation revealed a mature cystic teratoma. The conclusion was microphthalmia with limb anomalies (MLA) after missing limbs, absence of eyes, and cleft lip were input into the Online Mendelian Inheritance in Man database. The case was diagnosed with fetal microphthalmia with limb anomalies and an interfrontal teratoma.
UNASSIGNED: In this case, the entire exon analysis was not conducted, and as a result, the final diagnosis remains unclear. Based exclusively on the phenotype of the induced fetus, MLA was diagnosed. It is proposed that cases satisfying the requirements for a pathological diagnosis should undergo a pathological examination to establish a definitive diagnosis.
摘要：
■小眼症是一种罕见的常染色体隐性遗传疾病，通常称为Waardenburg无眼综合征（WAS）或眼-肢端形成综合征（MIM＃206920）。
■这里，我们报告了1例女性，其在妊娠12周时的胎儿超声检查显示多个胎儿异常。这些包括左上肢的缺失，正确的轨道显示不清楚，可见的上颌空间，一个圆,额头中部直径为4毫米的无回声外观。囊壁也有明显的回声。考虑了额叶脑膜膨出或长鼻样鼻子的可能性。胎儿是在没有左上肢的情况下分娩的，没有右眼，右侧的唇裂,怀孕后额头上有一个直径为5毫米的乳白色囊在医院终止。病理检查显示成熟的囊性畸胎瘤。结论是肢体缺失后的小眼伴肢体异常（MLA），没有眼睛,和唇裂被输入到人类在线孟德尔遗传数据库。该病例被诊断为胎儿小眼症伴肢体异常和额叶畸胎瘤。
■在这种情况下，没有进行整个外显子分析，结果，最终诊断仍不清楚.仅基于诱导胎儿的表型，MLA被诊断。建议满足病理诊断要求的病例应进行病理检查以建立明确的诊断。
■这里，我们报告了1例女性，其在妊娠12周时的胎儿超声检查显示多个胎儿异常。这些包括左上肢的缺失，正确的轨道显示不清楚，可见的上颌空间，一个圆,额头中部直径为4毫米的无回声外观。囊壁也有明显的回声。考虑了额叶脑膜膨出或长鼻样鼻子的可能性。胎儿是在没有左上肢的情况下分娩的，没有右眼，右侧的唇裂,怀孕后额头上有一个直径为5毫米的乳白色囊在医院终止。病理检查显示成熟的囊性畸胎瘤。结论是肢体缺失后的小眼伴肢体异常（MLA），没有眼睛,和唇裂被输入到人类在线孟德尔遗传数据库。该病例被诊断为胎儿小眼症伴肢体异常和额叶畸胎瘤。
■在这种情况下，没有进行整个外显子分析，结果，最终诊断仍不清楚.仅基于诱导胎儿的表型，MLA被诊断。建议满足病理诊断要求的病例应进行病理检查以建立明确的诊断。
