title: Calcospherite (calcification nodule) size in the short rib polydactyly syndromes.
abstract: The short rib polydactyly syndromes (SRP) are lethal neonatal skeletal dysplasias with a narrow chest, short limbs, and other abnormalities. Type II (Majewski) short rib polydactyly can be distinguished from the Type I/III (Saldino-Noonan) type on the basis of radiographic and histologic changes. Our previous transmission electron microscopic studies suggested unusual patterns of cartilage calcification in these syndromes. We evaluate calcification in the present study using scanning electron microscopy and quantitative morphometry of calcification regions digested to expose calcospherite nodules (calcification nodules), distinctive morphologic structures which form during cartilage calcification. Mean calcospherite area of the Majewski Type II SRP (3.5 +/- 0.24 x 10(-6) mm2 (3) (mean +/- sem (n) did not differ from normal control means (3.1 +/- 0.5 x 10(-6) mm2, (3)). The mean area for Type I/III, however, was significantly larger than both the control and Type II means (8.9 +/- 1.16 x 10(-6) mm2 (7), p = .001). This difference in calcospherite size adds a further differentiating feature between these two dysplasias.
authors.affiliation: Medical Genetics-Birth Defects Center, Cedars-Sinai Medical Center, Los Angeles, CA 90048.
authors.forename: H E
authors.initials: HE
authors.lastname: Gruber
authors.forename: R S
authors.initials: RS
authors.lastname: Lachman
authors.forename: D L
authors.initials: DL
authors.lastname: Rimoin
mesh_terms: D002114:Calcinosis / Q000473:pathology*; D002356:Cartilage / Q000737:chemistry / Q000378:metabolism / Q000648:ultrastructure; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008854:Microscopy, Electron; D008855:Microscopy, Electron, Scanning; D012779:Short Rib-Polydactyly Syndrome / Q000378:metabolism / Q000473:pathology*