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Variability in the phenotypic expression of fryns syndrome: A report of two sibships.

Abstract

We report on two sibships with four fetuses of 12, 15, 17, and 20 weeks of gestation, respectively, and 1 preterm baby of 31 weeks of gestation affected by a multiple congenital disorder with manifestation suggestive of Fryns syndrome. In addition to the characteristic malformation pattern in Fryns syndrome, they presented with fetal hydrops, cystic hygroma, and multiple pterygias, allowing prenatal ultrasound diagnosis as early as in the 11th week of gestation. The two affected fetuses of family 1 showed severe craniofacial anomalies with bilateral cleft lip and palate, acral hypoplasia, postaxial oligodactyly, persistent truncus arteriosus, and interrupted aortic arch, asplenia sequence, and complex central nervous system midline malformations. In family 2 with three affected sibs, ear anomalies with atresia of the auditory canals, postaxial hexadactyly, intestinal atresias, callosal defects, and eye colobomas were the most outstanding features. On the basis of the present findings and former reports, the inter- and intrafamiliar phenotypic variability in Fryns syndrome, possible pathogenetic mechanisms, and the value of prenatal diagnosis are discussed. In the pathogenetic discussion, a special emphasis is put on the neural crest cell developmental field.

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  • Publisher Full Text
  • Authors

    Ramsing M, Gillessen-Kaesbach G, Holzgreve W, Fritz B, Rehder H

    Institution

    Institut für Klinische Genetik, Philipps-Universität Marburg, Marburg, Germany.

    Source

    American journal of medical genetics 95:5 2000 Dec 18 pg 415-24

    MeSH

    Abnormalities, Multiple
    Adolescent
    Adult
    Diaphragm
    Female
    Fetal Diseases
    Genes, Recessive
    Humans
    Hydrops Fetalis
    Infant, Newborn
    Karyotyping
    Limb Deformities, Congenital
    Lymphangioma, Cystic
    Male
    Phenotype
    Pregnancy
    Syndrome
    Ultrasonography, Prenatal

    Pub Type(s)

    Case Reports
    Journal Article
    Research Support, Non-U.S. Gov't

    Language

    eng

    PubMed ID

    11146459