A FAMILIAL, generalized connective tissue disorder was first studied in two siblings by Schwartz and Jampel1 and later reinvestigated by Aberfeld et al.2 Within the first 14 months of life, these children developed myotonia, contractures, and blepharophimosis. Muscle biopsies revealed a diffuse atrophy with replacement of muscle fibers by adipose and connective tissue. Skeletal lesions present were similar to those described in Morquio-Brailsford disease. Serum enzymes, chromosomal analysis, urinary aminoacids, and mucopolysaccharides were normal.
We recently had the opportunity to examine an infant with a somewhat similar pattern of anomalies. However, the presence of several significant differences suggests that this patient represents a new entity.
Report of a Case
This female infant was the product of a full-term illegitimate pregnancy. During the second month of gestation, uterine fibroids were discovered but not removed at the time of abdominal laparotomy. The 37-year-old Caucasian mother had no previous pregnancies and