Memorias del Instituto de Investigaciones en Ciencias de la Salud
versión On-line ISSN 1812-9528
OVIEDO, P et al. Prenatal diagnosis of the agnathia-holoprosencephaly complex. Mem. Inst. Investig. Cienc. Salud [online]. 2011, vol.9, n.1, pp. 54-59. ISSN 1812-9528.
ABSTRACT The agnathia-holoprosencephaly complex or disgnatia complex constitutes a group of severe malformations that compromises the development of the central nervous system and the branchial archs its low frequency, 1:100,000 neonates. This is the first case report in the Paraguayan literature, pregnant girl of 16 years old, no exposure to teratogens, remitted to the service. The ultrasound scan revealed polyhydramnios, single eye socket, low positioned ears and absence of oral and nasal cavities. Kariotype: 46XY. By C-section a baby was born alive but died at 15 minutes, presented microcefalia, closed fontanels, cyclopia, low positioned ears, oral-nasal agenesis with a single sketch below the eye socket with a permeable orifice. X-ray examination: agenesia del maxilar inferior, con hipoplasia del maxilar superior. Autopsy: alobar holoprosencephaly; cyclopia, synophtalmia, sinotia, arhinia, agnatia; cardiopathy, hypoplastic lungs; bilateral cryptorchidism; gastric hypoplasia and umbilical cord with two vessels. The holoprosencephaly and cyclopia should be suspected during the routine obstetric ultrasound and a detailed ultrasound should be performed to corroborate diagnosis and look for another associated defects. The indication of fetal karyotype is obligatory. The normal obstetric follow-up is recommended for the following pregnancies. There are not fetal interventions that change the prognosis of fetuses with this pathology.
Palabras llave : Agnatia; holoproscencephaly; cyclopia; prenatal diagnosis.