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Bochdalek congenital diaphragmatic hernia, severe homolateral limb deficiency with intra-thoracic/abdominal limb remnants

Journal of Perinatology volume 31, pages 571–572 (2011)Cite this article

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This infant had a congenital diaphragmatic hernia (CDH) with complete absence of the left hemidiaphragm and left-upper-extremity amelia. He was otherwise normal without evidence of chromosomal abnormality or other well-defined syndrome. Although CDH and limb deficiency have been described in Fryn syndrome and Cornelia de Lange syndrome,1 both of these conditions have characteristic facial appearances not present in this patient. This infant was an otherwise normal-appearing male. Severe upper-extremity limb reduction, although rare, is one of the most common defects associated with CDH, occurring in 3.2% of cases.2 Only cardiovascular malformations, renal anomalies and cleft lip/palate are more commonly associated with CDH than limb deficiency.2 This association of homolateral limb reduction with CDH in otherwise normal-appearing infants with normal karyotype appears to have been first described by McCredie and Reid in 1978 (ref. 3) and later shown by Martinez Frias4 to be a polytopic developmental field defect. A developmental field is the basic biological unit of embryological development. Polytopic developmental field defects means that a number of abnormalities in various fields are required to explain the occurrence of multiple congenital anomalies during blastogenesis.5 The best-known association believed to be a polytopic developmental field defect is the VACTERL association.5 The critical period for upper-extremity development, based on the experience with thalidomide-induced phocomelia, is 24–36 days post-conception, and for diaphragmatic development is 28–48 days. Therefore, the critical period for the field defects to produce this association is 28–36 days post-conception.6

We previously presented a single case of CDH with homolateral limb deficiency in 2001 (ref. 7), but wish to present this additional case because of the presence of the intrathoracic/abdominal mass or pouch containing phalangeal remnants. To the best of our knowledge, such remnants have not been reported previously in patients with the CDH and homolateral limb reduction association.

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References

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  1. Mallinckrodt Institute of Radiology, Washington University School of Medicine, St Louis, MO, USA

    T E Herman & M J Siegel

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  1. T E Herman
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  2. M J Siegel
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Correspondence to T E Herman.

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Herman, T., Siegel, M. Bochdalek congenital diaphragmatic hernia, severe homolateral limb deficiency with intra-thoracic/abdominal limb remnants. J Perinatol 31, 571–572 (2011). https://doi.org/10.1038/jp.2011.31

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