Larsen's syndrome with novel congenital anomalies.
A full-term female infant with the rare Larsen's syndrome who died after 2 days is presented. The infant exhibited several of the anomalies characteristically reported with this syndrome. These include multiple joint deformities, a flattened facies, hydrocephalus, cardiac defects, and tracheal stenosis. We now report two additional congenital malformations that have not been previously reported with this syndrome: complete agenesis of the anus, with the distal colon ending in a cul-de-sac, and the presence of a bifid uterus. These novel congenital anomalies further support the etiology of Larsen's syndrome as a generalized mesenchymal disorder, since they arise from a defective process of embryonal induction involving mesenchymal tissue.
Klenn
P J
PJ
Department of Pathology and Cell Biology, Thomas Jefferson University Hospital, Philadelphia, PA 19107.
Iozzo
R V
RV
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D001003:Anal Canal / Q000002:abnormalities*; D001344:Autopsy; D003240:Connective Tissue Diseases / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D004204:Joint Dislocations / Q000151:congenital; D013577:Syndrome; D014599:Uterus / Q000002:abnormalities*