Postaxial Acrofacial Dysostosis Research Articles

Recurrence of postaxial acrofacial dysostosis in a sibship

Recurrence of postaxial acrofacial dysostosis in a sibship

Recurrence of the postaxial acrofacial dysostosis syndrome in a sibship: Implications for genetic counseling

adul thood. We have not encounte red a report of a pat ient diagnosed by biopsy who presented within the first year of life. Glucosuria, aminoacidur ia , phosphatur ia , and uricosuria were all present in this patient. Distal tubular functions of acidification and concent ra t ion were grossly intact. Hematur i a and a lbuminur i a are the major clinical findings in patients with heredi tary nephrit is : however, it does not seem surprising that some tubu la r dysfunct ion may occur with such extensive changes of the tubu la r basement membrane . This report suggests that some patients with heredi tary nephri t is may have an associated Fanconi syndrome. This finding may be of par t icular impor tance in early childhood when supplements of v i tamin D and b icarbonate may be prescribed as needed. R E F E R E N C E S

Etiologic heterogeneity in the oculoauriculovertebral syndrome

The occurrence of this syndrome in two siblings, a boy and a girl, of normal parents suggests that this condition is inherited in an autosomal recessive fashion. Because of the consistent type and severity of l imb reduction defects seen in this syndrome, prenatal diagnosis using ultrasound should be able to detect affected individuals prior to 20 weeks' gestational age. The difference in facial appearance in these affected siblings demonstrates that phenotypic variability is present in the postaxial acrofacial dysostosis syndrome.