Astomia-agnathia-holoprosencephaly association. Prenatal diagnosis of a new case
| Autor: | M. F. Sarramon, Rolland M, M. C. Bloom |
|---|---|
| Rok vydání: | 1991 |
| Předmět: |
Adult
Otocephaly Pathology medicine.medical_specialty Prenatal diagnosis Mandible Ultrasonography Prenatal Autosomal recessive trait Holoprosencephaly Pregnancy Hypotelorism medicine Humans Abnormalities Multiple Fetal Death Genetics (clinical) Neurocristopathy business.industry Obstetrics and Gynecology Cyclopia Fetal Blood medicine.disease Hypoplasia Abortion Spontaneous Karyotyping Pregnancy Trimester Second Female Mouth Abnormalities business |
| Zdroj: | Prenatal Diagnosis. 11:199-203 |
| ISSN: | 1097-0223 0197-3851 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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