Total: 1 |
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PMID (PMCID) | ||
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11146459 |
MIXED_SAMPLE | Infant, Newborn |
Variability in the phenotypic expression of fryns syndrome: A report of two sibships. | ||
Ramsing M, Gillessen-Kaesbach G, Holzgreve W, Fritz B, Rehder H. Am J Med Genet. 2000;95(5):415-24. |
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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. |