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  • 1
    Electronic Resource
    Electronic Resource
    Prenatal diagnosis of a probable hereditary syndrome with holoprosencephaly, hydrocephaly, octodactyly, and cardiac malformations (1984)
    Springer
    European journal of pediatrics 143 (1984), S. 155-157 
    Details
    ISSN: 1432-1076
    Keywords: Holoprosencephaly ; Hydrocephaly ; Octodactyly ; Cardiac malformations ; Prenatal diagnosis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Following genetic counselling of a consanguineous couple because of a daughter born with peripheral hypoplasia of the left arm, ultrasonographic examination during the second pregnancy revealed marked hydrocephalus of the fetus in the 17th week of pregnancy. Pathologic examination of the female fetus disclosed severe cerebral, cardiac, and skeletal malformations including holoprosencephaly, absent corpus callosum, microphthalmia, facial clefts, tetramelic octodactyly, and cardiac defects. These findings indicate a possible genetically determined syndrome that appears to be distinct in spite of some overlap with other malformation syndromes.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00445808
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Prenatal diagnosis of a short-rib-polydactylia syndrome type Saldino-Noonan at 17 weeks' gestation (1983)
    Springer
    European journal of pediatrics 140 (1983), S. 63-69 
    Details
    ISSN: 1432-1076
    Keywords: Short-rib-polydactylia syndrome ; Saldino-Noonan syndrome ; Prenatal diagnosis ; Ultrasound examinations
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A case is described in which the family history and the sonographic findings during the 17th gestational week led to the suspicion of a short-rib-polydactylia syndrome of the Saldino-Noonan type and an abortion was induced. The ultrasound image disclosed cystic structures in the topographic area of the kidney, marked ascites and oligohydramnios and indicated a severe fetal developmental disturbance. Due to the oligohydramnios the extremities could not be interpreted sonographically. The pathological-anatomical findings confirmed the suspected short-rib-polydactylia syndrome of the Saldino-Noonan type. Typical skeletal changes, dysgenetic cystic kidneys and pancreatic fibrosis were especially indicative of the syndrome. The complete agenesia of the islets of Langerhans, present in our observation, has, as far as we know, previously not been reported in the case of short-rib-polydactylia syndromes.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00661909
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    Paper (German National Licenses)
    Fulltext
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