We report on a 2 year old boy with SHFM associated with features of ectodermal hypoplasia, a submucous cleft palate, congenital vertical talus, malformations of the middle
[jmg.bmj.com]
He also had hypertelorism, a large biparietal diameter, hypopigmented retina, micrognathia, a submucous cleft palate, carious primary teeth and hypodontia, sparse, light hair
[jmg.bmj.com]