Developmental field defects: coming together of associations and sequences during blastogenesis.
We report on two patients with an unusual combination of multiple congenital anomalies including holoprosencephaly, encephalocele, and additional defects commonly observed in the VACTERL and schisis "associations." One of the infants had a chromosome abnormality characterized by partial duplication and deletion of chromosome 18. VACTERL association was characterized recently as a primary developmental field defect (DFD) [Martínez-Frías et al., 1998: Am J Med Genet 76:291-296]. In some cases, sequences may also represent uncomplicated DFDs. We suggest that findings in both of these cases represent abnormalities of blastogenesis involving the primary field resulting in holoprosencephaly and VACTERL and schisis anomalies, and show that similar primary DFDs are causally heterogeneous.
Weisskopf Center for the Evaluation of Children, Department of Pediatrics, University of Louisville, Louisville, Kentucky 40202, USA. jhhers01@gwise.louisville.edu
Joseph H
JH
Hersh
Brad
B
Angle
Terry L
TL
Fox
Rolf F
RF
Barth
Robert W
RW
Bendon
Gordon
G
Gowans
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D001006:Anus, Imperforate / Q000473:pathology; D002869:Chromosome Aberrations; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics; D004480:Ectromelia / Q000473:pathology; D004677:Encephalocele / Q000473:pathology*; D017809:Fatal Outcome; D005315:Fetal Diseases / Q000235:genetics / Q000473:pathology; D006330:Heart Defects, Congenital / Q000473:pathology; D016142:Holoprosencephaly / Q000473:pathology*; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities; D008297:Male