Rolland M, Sarramon M F, Bloom M C
Service de Medicine Infantile B, Hospital de la Grave, Toulouse, France.
Prenat Diagn. 1991 Mar;11(3):199-203. doi: 10.1002/pd.1970110310.
A case of agnathia-astomia-holoprosencephaly with prenatal ultrasound diagnosis at 23 weeks is reported and discussed. This lethal neurocristopathy, well known in mammalians, is rarely observed in humans. Prenatal diagnosis features are intrauterine growth retardation, mandibular absence or major hypoplasia, holoprosencephaly, cyclopia or hypotelorism, and in some instances frontal proboscis. This malformation is usually sporadic, but may be genetically determined as an autosomal recessive trait, since two cases in the same sibship have been reported.
报告并讨论了一例在孕23周时经产前超声诊断为无颌-无口-前脑无裂畸形的病例。这种致命的神经嵴病在哺乳动物中很常见，但在人类中很少见。产前诊断特征包括宫内生长迟缓、下颌缺如或严重发育不全、前脑无裂畸形、独眼畸形或眼距过窄，在某些情况下还有额鼻管。这种畸形通常是散发性的，但也可能是由常染色体隐性遗传决定的，因为已有同一家庭中两例病例的报道。
