Achondroplasia is a rare genetic disorder that causes disproportionate short stature. Hallmark physical features include macrocephaly, frontal bossing, and rhizomelia. The condition is caused by a ...

All other clinical features of interest were found in both groups (achondroplasia vs hypochondroplasia), including trident hand (36% vs 8%), macrocephaly (54% vs 51%), rhizomelia (64% vs 43%), and ...

The patient was diagnosed with tracheomalacia at age 2 months. At the time, relative macrocephaly, frontal bossing, hypertelorism, depressed nasal bridge, anteverted nares, mild pectus excavatum, ...