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- W2185934203 abstract "A paper presents a case of a 31-year old multiparous woman, in dichorionic diamniotic twin pregnancy. In prenatal ultrasound examination at 13+6 weeks of pregnancy an initial diagnosis of skeletal dysplasia in fetus B was made based on the following features: shortening of limbs and rib, hypoplastic thorax. In 25 weeks ultrasound revealed flat profile, micrognathia, short ribs reaching half of the thoracic circumference and shortening of limbs. Hypoplastic thorax was clearly visible, as well as signs of abnormal fetal bones mineralization. The fetal head was relatively large with short neck. According to ultrasound features and OMIM database the differential diagnosis was made considering one of the following three diseases: opsismodysplasia, asphyxiating thoracic dystrophy and cerebrocostomandibular syndrome. After neonatological and genetic consultation the diagnosis of asphyxiating thoracic dystrophy was made. Asphyxiating thoracic dystrophy (Jeune syndrome) is a rare autosomal recessive skeletal dysplasia characterized by small thorax, short ribs and polydactyly." @default.
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- W2185934203 date "2011-01-01" @default.
- W2185934203 modified "2023-09-27" @default.
- W2185934203 title "Asphyxiating thoracic dystrophy in one of the twins - a case report" @default.
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