The Syndrome of Caudal Dysplasia: a Review, Including Etiologic Considerations and Evidence of Heterogeneity

Abstract

The syndrome of caudal dysplasia (CDS) and the wide spectrum of associated skeletal and other anomalies are reviewed, and a further case of this disorder is presented. The syndrome of CDS should be distinguished from the familial forms of sacral dysgenesis, three forms of which are tentatively identified. Two of these usually involve some degree of "hemi-sacrum." The third is usually manifested as partial sacral agenesis with absent distal segments. All these familial types are probably genetic dominants, and none is associated with maternal diabetes. Usually CDS is not familial, but it often is associated with a tendency toward diabetes in the mother. The suggestion is advanced here that CDS is the result of a combination of two principal factors represented by (a) a maternal diabetic tendency and (b) separate nondiabetogenic genes. Determination of the human leucocyte antigen (HLA) haplotypes involved in CDS is suggested to investigate the possibility of genetically distinctive factors in this condition.

Concerted involvement of Cdx/Hox genes and Wnt signaling in morphogenesis of the caudal neural tube and cloacal derivatives from the posterior growth zone

“…The caudal regression syndrome, also called caudal dysplasia (Welch and Aterman, 1984) encompasses a range of congenital defects of varying severity. These may involve malformations of the lumbar vertebrae, partial or complete sacral agenesis, caudal neural tube defects and abnormalities of cloacal derivatives.…”

Limb body‐wall complex in association with sirenomelia sequence

“…For LBC there are the amniotic band theory [Torpin, 19651, vascular disruption theory [Van Allen et al, 19871, and embryonic "dysplasia" theory [Hartwig et al, 19891. For SS, there are the vascular steal theory [Stevenson et al, 19861, mesodermo-notochord anlage dysgenesis theory [Chandebois and Brunet, 19871, and maternal diabetic theory [Welch and Aterman, 1984;Stewart et al, 19791. Both malformations are rare.…”

Caudal Regression Syndrome: A Journey from Sweet to Sour: A Unique Complication of Maternal Diabetes Mellitus: A Case Report of a Still Born Fetus

“…About 15-25% of children with caudal regression syndrome are born to mothers with insulin dependent diabetes mellitus. The risk of caudal dysplasia is up to 600 times higher in these infants (2).Itis considered as the most characteristic of all congenital anomalies associated with maternal diabetes mellitusby some authorities (3). Here we present a case of a still born fetus with caudal regression syndrome, delivered pre term by a mother with pre gestational diabetes mellitus.…”