Nine infants with thanatophoric dysplasia (TD) and cloverleaf skull (CS) are reported. Twenty-two previously published CSTD cases are reviewed. These CSTD cases are compared to cases of TD without CS. It is concluded that there are two types of TD: type 1, with curved femora and very flat vertebral bodies; and type 2, with straight femora and taller vertebral bodies. Consistent but subtle histopathological characteristics differentiate the two types. Only a very few type 1 cases have CS, and the CS is mild. Almost all type 2 cases have severe CS.
Neuropathologic study of eight cases of thanatophoric dysplasia (dwarfism) reveals developmental abnormalities including hypoplasia of posterior fossa, megalencephaly, cerebral gyral disorganization, hippocampal malformation, neuronal heterotopia, nuclear dysplasia, and abnormal axonal bundles. There are no noticeable differences in CNS abnormalities between thanatophoric dysplasia with and without cloverleaf skull (Kleeblattschädel). The CNS abnormalities, likely the result of abnormal neuronal migration and cytoarchitectonic disarrangement, are apparently not caused by skeletal abnormalities. The observation suggests that CNS abnormalities represent a characteristic and distinct manifestation of thanatophoric dysplasia.
A male fetus with short rib (polydactyly) syndrome, Beemer-Langer type was aborted at 30 weeks' gestation because of abnormalities visualized on sonography. This is the first documented case with polydactyly in this recently defined entity. The clinical, radiological, and pathological findings, especially of the bones, are described. The differential diagnosis of this entity is discussed.
Fourteen patients with primary Crohn's disease of the appendix have been seen in a 12 year period. These patients represent 12.8% of the total number undergoing surgical resection because of Crohn's disease. Twenty-three cases of appendiceal Crohn's disease have been previously reported in the literature. A correct preoperative diagnosis is rarely made; the usual diagnosis is that of acute appendicitis or appendiceal abscess. The removed appendix in twelve of our 14 cases had marked thickening of the wall with transmural fibrosis and often with granulomatous inflammation. The enlarged appendix had an external appearance similar to that of ileal Crohn's disease, and we consider a correct surgical diagnosis might be possible with better awareness of its existence. The diagnosis might be suspected earlier when the clinical course of apparent appendicitis is protracted or atypical. Contrary to the previous estimation of high recurrence rate, this series and the cumulative evidence in the literature show a relatively low rate at 14%. The feared fistula formation following the removal of the appendix has not been seen in either our series or the literature. These patients, however, merit long-term follow-up.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.