Dinno N D, Shearer L, Weisskopf B
Eur J Pediatr. 1976 Aug 16;123(1):39-42. doi: 10.1007/BF00497678.
We describe a female infant with lethal, short-limb dwarfism, micrognathia, hydrocephalus with occipital encephalocele and a generalized spondyloepimetaphyseal dysplasia who probably has the same condition that was described by Rolland et al. (1972) and by Langer et al. (1976). This may be recessively inherited syndrome