Epiphyseal Dysplasia, Microcephaly, And Nystagmus

Clinical Features

Lowry and Wood (1975) described epiphyseal dysplasia, microcephaly, and nystagmus in 2 brothers. The radiologic finding consisted of small and irregular epiphyses, square iliac bones, and flattened acetabula. The brothers were both 'small-for-date' babies. The older brother was mildly retarded. Lowry et al. (1989) presented follow-up information on these brothers. They were reexamined at the ages of 17.75 and 15.75 years. Both had restricted elbow extension and the younger brother had bilateral dislocated radial heads. The older brother had developed typical changes of retinitis pigmentosa. The younger brother also had retinitis pigmentosa, although he was not studied as fully as was the older brother (Lowry, 1993).

Nevin et al. (1986) described affected brother and sister with short stature, microcephaly, mental retardation, and multiple epiphyseal dysplasia. They did not have nystagmus. Nevin et al. (1986) concluded that autosomal recessive inheritance was likely. Hankenson et al. (1989) described a brother and sister with epiphyseal dysplasia and microcephaly. They did not have mental retardation or nystagmus.

Brunetti-Pierri et al. (2003) described a patient with microcephaly and multiple epiphyseal dysplasia, but no additional features, suggesting a mild form of Lowry-Wood syndrome. No mutations were found on molecular analysis of the cartilage oligomeric matrix protein gene (600310).

Magnani et al. (2009) described a 17-year-old boy who displayed clinical features consistent with Lowry-Wood syndrome, including microcephaly, short stature, multiple epiphyseal dysplasia, tapetoretinal degeneration, and mental retardation. Bilateral restricted elbow extension, knock knees, and hip dislocation were also present. Radiographs showed evidence of radial dislocation due to absence of radial heads, lateral dislocation of both patellae, multiple epiphyseal dysplasia that was more severe at the proximal femoral epiphyses, and dislocation of both hips with severe dysplasia. Conventional karyotyping was normal; molecular karyotyping by array-based competitive genomic hybridization showed copy number variants that were probably benign. Magnani et al. (2009) suggested that severe hypoplasia or agenesis of the radial heads and multiple joint dislocations (elbows, hips, and knees, including the patellae) might be additional signs of Lowry-Wood syndrome.