Syndrome of microcephaly, Brachmann–de Lange‐like facial changes, severe metatarsus adductus, and developmental delay: Mild Brachmann‐de Lange syndrome?
- 1 February 1992
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 42 (3) , 381-386
- https://doi.org/10.1002/ajmg.1320420328
Abstract
We report on 4 individuals (3 sibs and their father) with a syndrome of growth retardation, microcephaly, minor facial anomalies reminiscent of a mild Brachmann–de Lange syndrome (BDLS), severe metatarsus adductus, developmental delay, and unusual dermatoglyphics. The syndrome, which seems to be inherited as an autosomal dominant trait with variable expressivity, resembles mild BDLS.Keywords
This publication has 12 references indexed in Scilit:
- The syndrome of hirschsprung disease, microcephaly, unusual face, and mental retardationAmerican Journal of Medical Genetics, 1990
- Mild Brachmann-de Lange syndrome: Changes of phenotype with ageAmerican Journal of Medical Genetics, 1989
- The Brachmann‐de Lange syndromeAmerican Journal of Medical Genetics, 1985
- Pregnancy in a woman with the Brachmann-de Lange syndromeAmerican Journal of Medical Genetics, 1985
- Börjeson‐Forssman‐Lehmann syndrome: Further delineation in five casesAmerican Journal of Medical Genetics, 1984
- Definition and diagnosis of the Brachmann-De Lange syndromeAmerican Journal of Medical Genetics, 1983
- The hand profile in de Lange syndrome: Diagnostic criteriaAmerican Journal of Medical Genetics, 1979
- FAMILIAL OCCURRENCE OF CORNELIA DE LANGE'S SYNDROMEActa Paediatrica, 1974
- Neurologic and Psychometric Findings in the Brachmann-De Lange SyndromeNeuropediatrics, 1971
- The Cornelia de Lange syndromeThe Journal of Pediatrics, 1963