Picture of the month: Frontometaphyseal dysplasia.
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Biomedical subjects
Publications and source records attributed to M Feingold.
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Familial aggregates of incomplete Müllerian fusion have been reported, but the role of genetic factors has not been elucidated. In the last several years, we have fortuitously encountered three families in which several members were affected with Müllerian fusion anomalies. In two families, several members had incomplete Müllerian fusion as traditionally described. In the third family, several members had the hand-foot-genital syndrome, a rare autosomal dominant disorder characterized not only by Müllerian fusion defects but also by skeletal (hand and foot) malformations. The etiologic heterogeneity of Müllerian fusion defects is considered.
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Ultrasonography was used to measure the width of the internal os in 24 patients, for whom a McDonald operation was planned because they were considered to have cervical incompetence and in 19 women with normal obstetric histories. The mean widths of the internal os were 2.57 cm +/- 0.36 and 1.67 cm +/- 0.23, respectively (p less than 0.001). This new and objective procedure, which is used during pregnancy, provides an additional method for the diagnosis of cervical incompetence.
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Isolated deficiency of the lysosomal hydrolase acid neuraminidase results in multisystem storage of sialic acid-rich oligosaccharides. Wide phenotypic diversity occurs within this biochemical defect. We studied three cases of an infantile form of mucolipidosis I in which the phenotype is dominated by severe Hurloid features. These patients excreted excessive amounts of sialic acid-rich oligosaccharides in their urine, and storage of similar compounds was shown in tissues and cultured fibroblasts. Cultured fibroblasts demonstrated an isolated deficiency of acid neuraminidase; beta-galactosidase levels were normal.