An association of caudal malformations arising from a defect in the "axial mesoderm" developmental field.
We have studied two newborn infants with a remarkable genital malformation, failure of urethral development with enormous bladder distension, atresia of the distal hindgut, vertebral abnormalities, and compression deformities. This is a pattern of anomalies similar to, and probably an extension of, the association of female pseudohermaphroditism and other anomalies (FPA) described by Lubinsky [Am J Med Genet 6:123-136, 1980]. We propose that its pathogenesis involves a defect expressed in mesoderm, especially caudal mesoderm. We offer some speculation on what might be its nature, with particular reference to the theory of cell surface molecules having a role in morphogenesis. We apply the concept of the developmental field to provide a clarifying perspective.
Gardner
R J
RJ
Department of Paediatrics and Child Health, University of Otago, Dunedin, New Zealand.
Nelson
M M
MM
D000015:Abnormalities, Multiple / Q000209:etiology*; D005260:Female; D005836:Genitalia, Female / Q000002:abnormalities; D005837:Genitalia, Male / Q000002:abnormalities; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008648:Mesoderm / Q000502:physiology*; D013116:Spinal Cord / Q000002:abnormalities*