New syndrome of macrocephaly, hypertelorism, short limbs, hearing loss, and developmental delay.Am J Med Genet. 1995 Jan 30; 55(3):367-71.AJ
We describe a boy with an apparently unique constellation of anomalies, including macrocephaly, short stature, relatively short limbs, hearing loss, developmental delay, sparse anterior scalp hair, hypertelorism, downslanting palpebral fissures, and a short nose with a broad, flat nasal bridge and anteverted nares. Chromosomes were normal and radiographs failed to show a bone dysplasia. We conclude that this represents a new syndrome.