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 CaseThis female infant was the product of a ful l \x=req-\ 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 was in good health. The mother's 41-year-old brother and a twin brother have also been in good health and have a total of six normal children. Little information was avail¬ able concerning the Negro father who was in his 30's.
In 4319 infants examined at birth who were without major birth defects those with a "remarkable" pregnancy outcome, i.e., low birth weight (less than 2500 g), long gestation (greater than or equal to 43 weeks), stillborn, or twin status, were more likely to have a minor birth defect than the remainder. With regard to the 2 most frequent defects, simian crease and folded helix, the increase in the former was of about the same order (1.6-2.1 -fold) in those with remarkable outcome of all types, but the increase in the latter was particularly great in twins (approximately 3.1-fold) compared with the other remarkable outcomes (approximately 1.3-fold). With regard to variants, which were defined as those features scored that occurred in 4% or more of the newborn population, some (flat and small hemangioma on face and scalp, Brushfield spots, flat nasal bridge, hyperflexed thumbs, hydrocele, and mild calcaneovalgus) exhibited a trend towards negative association with low birth weight and a trend to positive association (with exception of hemangioma and calcaneovalgus) with long gestation, suggesting they may simply be indirect markers of gestational age. There was a trend to a slight decrease in the frequency of minor defects with increasing maternal age, similar to the trend for major defects.
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