Infant born with Robert's syndrome without prenatal care in a developing nation

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Prenatal diagnosis of Roberts syndrome.

Roberts syndrome is a rare autosomal recessive condition with variable phenotype. Severe manifestations are profound tetraphocomelia, cleft lip and palate, hypoplastic nasal alae and oligodactyly with infrequent survival beyond infancy. At least 28 patients from 16 sibships have been reported so far. We recently had the opportunity to monitor the pregnancy at risk for having an affected fetus. ...

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ژورنال

عنوان ژورنال: BMJ Case Reports

سال: 2016

ISSN: 1757-790X

DOI: 10.1136/bcr-2016-216868