Unusual type of brachydactyly associated with short stature and facial anomalies. A new syndrome?Am J Med Genet. 1985 Aug; 21(4):637-42.AJ
We report on a 10-year-old boy with short stature, mild microcephaly, malar hypoplasia, highly arched palate, prominent upper incisors, micrognathia, and unusual digital anomalies involving the proximal phalanges of fingers 2-5 of both hands. To our knowledge, this is a hitherto undescribed syndrome.