The proband was born to a 24-year-old gravida 1, para O black woman after a 35 week gestation complicated by polyhydramnios. Labour was induced when ultrasound studies indicated severe congenital malformations. The family and maternal histories, including exposure to viral and toxic agents and developmental disturbances, were negative. The 1280 g premature cyclopic female infant measured 25 cm crown-rump and 40 cm crown-heel. The major portion of the face was occupied by a proboscis with a midline probe patent ostium. The ostium ended blindly in a space 1 cm in diameter contained within the soft tissue. Bulging from the scalp above the proboscis was an anterior meningocele. Below the proboscis, the external ears were fused and the auditory canals were absent with apparent agenesis of the middle and inner ears. The mandible was absent and there was no oral opening although there was an oropharyngeal space that contained a hypoplastic tongue. There was a tracheo-oesophageal fistula. The brain was holoprosencephalic, alobar type, with a single large ventricle and fused thalami. There were many cardiopulmonary anomalies. The placenta weighed 344 g and microscopically exhibited multifocal areas of chronic necrotising and granulomatous villitis, haemorrhagic villitis and endovasculitis, and chronic granulomatous chorionitis. The karyotype of the proband was normal, 46,XX. The patient is an example of alobar holoprosencephaly combined with otocephaly, a combination of anomalies that is reported infrequently.
|Original language||English (US)|
|Number of pages||1|
|Journal||Journal of Medical Genetics|
|State||Published - 1982|
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