A new skeletal dysplasia: Clinical, radiologic, and pathologic findings

Barbara K. Burton*, Thomas Sumner, Leonard O. Langer, David L. Rimoin, Gerald E. Adomian, Ralph S. Lachman, Joseph F. Nicastro, David L. Kelly, R. Grey Weaver

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

12 Scopus citations


Two siblings, one male and one female, were noted to have a distinct skeletal dysplasia. The clinical and radiographic features resemble those observed in Kniest dysplasia and Rolland-Desbuquois syndrome, but important differences were noted. Specifically, these two patients have microstomia, "pursed" lips, and ectopia lentis, and their radiographs reveal no coronal clefts. Chondroosseous features also differ from those observed in either of the other disorders. Scattered dense patches consisting of collagen fibers 10 to 30 times broader than normal are seen scattered throughout the carftiage matrix; the "Swiss cheese" appearance characteristic of Kniest dysplasia is not observed. These patients appear to have a new skeletal dysplasia, most likely inherited in an autosomal recessive fashion.

Original languageEnglish (US)
Pages (from-to)642-648
Number of pages7
JournalThe Journal of pediatrics
Issue number4
StatePublished - Oct 1986

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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