Fronto-metaphyseal dysplasia. Further delineation of the clinical syndrome

Abstract

Fronto-metaphyseal dysplasia is a rare but clinically striking condition characterized by skeletal and other abnormalities. Typical clinical and radiological features of the disease were present in four individuals in the family in this report. One of these, a male, had an obstructive uropathy at birth, making this the fourth male reported with fronto-metaphyseal dysplasia and an associated renal abnormality. In addition, he had severe congenital stridor associated with sub-glottic narrowing of the trachea. His affected sister also had severe congenital stridor associated with sub-glottic stenosis and a tracheal web. Both children had recurrent respiratory tract infection requiring frequent hospital admission. Respiratory problems have been reported in several other individuals with fronto-metaphyseal dysplasia and it would appear that renal and respiratory tract abnormalities are part of the syndrome. Although sex-linked inheritance has been considered the most likely mode of transmission of the disease, the segregation and clinical severity of the condition in this family could be equally well explained on the basis of dominant inheritance with varying expressivity.