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Wilgenbus KK, Engers R, Crombach G, et al. Two fetuses with Fryns syndrome without diaphragmatic defects. J Med Genet. 1994;31(12):962-4doi: 10.1136/jmg.31.12.962.
Wilgenbus, K. K., Engers, R., Crombach, G., & Majewski, F. (1994). Two fetuses with Fryns syndrome without diaphragmatic defects. Journal of medical genetics, 31(12), 962-4. https://doi.org/10.1136/jmg.31.12.962
Wilgenbus, K K, et al. "Two fetuses with Fryns syndrome without diaphragmatic defects." Journal of medical genetics vol. 31,12 (1994): 962-4. doi: https://doi.org/10.1136/jmg.31.12.962
Wilgenbus KK, Engers R, Crombach G, Majewski F. Two fetuses with Fryns syndrome without diaphragmatic defects. J Med Genet. 1994 Dec;31(12):962-4. doi: 10.1136/jmg.31.12.962. PMID: 7891381; PMCID: PMC1016700.
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J Med Genet. 1994 Dec;31(12):962-4. doi: 10.1136/jmg.31.12.962.

Two fetuses with Fryns syndrome without diaphragmatic defects.

Journal of medical genetics

K K Wilgenbus, R Engers, G Crombach, F Majewski

Affiliations

  1. Department of Pathology, Heinrich-Heine University, Duesseldorf, Germany.

PMID: 7891381 PMCID: PMC1016700 DOI: 10.1136/jmg.31.12.962
Free PMC Article

Abstract

We report two fetuses with Fryns syndrome including the typical facial appearance and distal limb and lung hypoplasia, but no diaphragmatic hernias. The parents were consanguineous. Characteristic in both cases were the distal limb defects with brachytelephalangism and aplasia of the distal phalanges of the first toe. Since one of the two sibs had severe lung hypoplasia without macroscopic or microscopic defects of the diaphragm, we show that lung hypoplasia can occur independently from diaphragmatic defects in Fryns syndrome.

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