Abnormal facies, myopia, and short stature

Abstract

Three members of a family are described who have a curious facies due to a severely depressed nasal bridge, anteverted nostrils, wide-set eyes, high myopia, and short stature. The facial appearance is due to faulty development of the ethmoid bone, which also causes a short anterior cranial fossa. One member of the family was autistic and had a cleft palate. These cases closely resemble, but are thought to be distinct from, a family described by Marshall (1958) whose members had a similar facies which appeared to be due to a defective maxilla, deafness, myopia, and cataracts which were subject to many complications. One further case is described resembling Marshall's cases even more closely; she is deaf but does not have cataracts.