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Stickler syndrome is an autosomal dominant connective tissue disorder with a prevalence similar to that of Marfan syndrome. No previous study has examined hip pain or abnormalities in a large series of patients with Stickler syndrome. The purpose of this study was to describe hip abnormalities and their correlation with age and chronic hip pain in a cohort of 51 patients followed at the National Institutes of Health. Ten percent of patients had protrusio acetabuli, 21% coxa valga, and 34% of adults had hip osteoarthritis. Sixty-three percent of all patients and 79% of adults had chronic hip pain. In addition, 16% of adult patients had a history of femoral head failure during youth. Arthritic changes and adult age were associated with hip pain. In summary, hip abnormalities are commonly observed in Stickler syndrome. Young patients require careful evaluation of hip pain, and regular screening of children with Stickler syndrome may be indicated for early detection of hip complications.

A dysmorphic retarded fourteen-mont-old female with partial deletion of the long arm of chromosome 6 is presented. The breakpoint in 6q was in region 2, probably at band 5. Eight other infants with a deletion involving the long arm of chromosome 6, including five with a ring chromosome 6, have been reported. The affected individuals have in common microcephaly, micrognathia, hypotonia and psychomotor retardation, but do not appear to have a distinctive phenotype.

We have evaluated a sister and brother with a similar pattern of malformations and death in early childhood associated with partial duplication chromosome 5p and possibly deletion of 9p. The father and the brother and several paternal relatives are carriers of the balanced translocation t(5;9) (p13;p22). The malformations which the two have in common are: prominent forehead, flat nasal bridge, long thin fingers, bilateral equinovarus deformity of the feet, diaphragmatic hernia and kidney malformations. The children died at ages 4 months and 27 months, the latter showing marked psychomotor retardation. The chromosome abnormalities, clinical history, and phenotypic features of our patients are similar to the case reported by Monteleone et al (1976). The findings in our patients and Monteleone et al. (1976) are not similar to those in other reported cases of partial and complete 5q duplications, perhaps because the others do not have partial deletion of 9p.