Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis

Jung et al. (1995) described 2 unrelated children (a male and a female) with anterior chamber cleavage disorder (including coloboma of the right iris in the girl), growth retardation, congenital hypothyroidism, narrow external auditory meatus, cerebellar hypoplasia (with Dandy-Walker malformation in the boy), short neck, tracheal stenosis, hip dysplasia, and dense scalp hair. Deficiency of growth hormone, short feet, fusion of 1-2 lower incisors, and shield thorax were found in the 4-year-old girl. Hypoplasia of the penis was noted in the boy, who died at the age of 3.5 years. This complex could represent a widening of the clinical spectrum of Peters-plus syndrome (261540), but the occurrence of cerebellar defects, tracheal stenosis, and endocrine abnormalities suggested a hitherto undescribed entity.