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Prenatal ultrasound diagnosis of Roberts syndrome at 21 weeks

Thomaz R. Gollop^I; Alberto Eigier^I; Decio Hauschild^I; João Guidugli Neto^II; Antonio Fernandes Moron^III

^IServiço de Genética Humana da Associação Maternidade de São Paulo, Rua Félix de Souza, 285, Campo Belo, 04612 São Paulo, SP, Brasil. Send correspondence to T.R.G.
^IIServiço de Anatomia Patológica do Hospital Israelita Albert Einstein, Av. Albert Einstein, 665, 05652 São Paulo, SP, Brasil
^IIIDisciplina de Obstetrícia da Escola Paulista de Medicina, Rua Napoleão de Barros, 715, 04024 São Paulo, SP, Brasil

ABSTRACT

We describe an early diagnosis of Roberts syndrome at 21 weeks. Besides severe tetraphocomelia, normal amount of amniotic fluid and normal visualized bladder and kidneys, we observed severe retromicrognathia without cleft lip/palate or premaxillary protuberances. All of the above related findings were confirmed at autopsy.

Keywords: Ultrasound diagnosis; Roberts syndrome.

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