Cases reported "Polydactyly"

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1/5. short rib-polydactyly syndrome: more evidence of a continuous spectrum.

    We report a fetus with radiological features of the four established types of short rib-polydactyly syndrome (SRPS). The phenotype of this fetus supports the previously suggested hypothesis that the different subtypes of the short rib and polydactyly syndrome are not single entities, but rather, part of a continuous spectrum with variable expressivity.
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ranking = 1
keywords = short rib-polydactyly syndrome, rib-polydactyly syndrome, short rib-polydactyly, rib-polydactyly
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2/5. Mesomelic campomelia, polydactyly and Dandy-Walker cyst in siblings.

    The present report describes two fetuses, one female and one male, with thus far undescribed skeletal malformations. The mother was a gravida 2, para 0. Both pregnancies were terminated in the second trimester because of multiple congenital anomalies diagnosed ultrasonographically resembling a short rib-polydactyly syndrome. Both fetuses were found to have postaxial hexadactyly of the hands and feet, marked bilateral campomelia of the forearm and shank bones, and a Dandy-Walker cyst. In addition, the fourth ventricle was dilated in the first sibling and the second sibling had an inverse intestinal malrotation. A literature search failed to reveal similar observations.
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ranking = 0.39727115829466
keywords = short rib-polydactyly syndrome, rib-polydactyly syndrome, short rib-polydactyly, rib-polydactyly
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3/5. Short-rib-polydactyly syndrome presenting with increased nuchal translucency in a high-risk family.

    Short-rib-polydactyly syndrome represents a group of rare, autosomal recessive, lethal skeletal dysplasias characterized by hypoplastic thorax, short ribs, short limbs, polydactyly, and visceral abnormalities. We describe an affected fetus from a high-risk family presenting with increased nuchal translucency at 13 weeks of pregnancy. The diagnosis was established in the 2nd trimester.
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ranking = 0.75341105213168
keywords = rib-polydactyly syndrome, rib-polydactyly
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4/5. Beemer-Langer type short rib-polydactyly syndrome: report of two cases.

    Two sibs who died shortly after birth had multiple congenital anomalies that included hydrops, narrow thorax, short limbs, and absence of polydactyly; therefore short rib (polydactyly) syndrome Beemer-Langer type was suggested. We report these cases and discuss the differentiation with Majewski type.
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ranking = 1.5890846331786
keywords = short rib-polydactyly syndrome, rib-polydactyly syndrome, short rib-polydactyly, rib-polydactyly
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5/5. short rib-polydactyly syndrome in twins: Beemer-Langer type with polydactyly.

    We present premature female twin fetuses with concordant extremely shortened ribs, short limbs, macrocephaly, median cleft upper lip and facial dysmorphism. Based on radiological criteria and the pattern of associated abnormalities, a lethal short rib-polydactyly syndrome (Beemer-Langer type) was diagnosed. The differential diagnosis of this entity is discussed.
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ranking = 1
keywords = short rib-polydactyly syndrome, rib-polydactyly syndrome, short rib-polydactyly, rib-polydactyly
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