Unusual type of brachydactyly associated with short stature and facial anomalies. A new syndrome?
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.
D000015:Abnormalities, Multiple / Q000473:pathology*; D002648:Child; D003878:Dermatoglyphics; D005145:Face / Q000002:abnormalities*; D005385:Fingers / Q000002:abnormalities*; D006130:Growth Disorders / Q000150:complications*; D006801:Humans; D008297:Male; D013577:Syndrome