Delayed diagnoses of Turner's syndrome: proposed guidelines for change.

OBJECTIVE: To measure the delays in diagnosis of Turner's syndrome (TS) and to propose strategies for earlier screening and diagnosis. METHODS: The medical records of 81 girls with TS were reviewed for age at diagnosis, reason(s) for karyotype analysis, and clinical features including growth failure. Delay in diagnosis was calculated as equal to age at diagnosis for children born with lymphedema and/or 2 or more of the following dysmorphic features: webbed neck, nail dysplasia, high palate, and short fourth metacarpal. For all others, delay in diagnosis was calculated as the difference between the age at which height fell below the 5th percentile and the age at which the diagnosis of TS was made. RESULTS: Lymphedema was the key to diagnosis in 97% of the girls diagnosed with TS in infancy, and short stature was the key to diagnosis for 82% of the girls diagnosed in childhood or adolescence. For girls diagnosed in childhood or adolescence, the delay in diagnosis averaged 7.7 +/- 5.4 years. Many had dysmorphic features and/or a history of lymphedema at birth, and diagnosis was made an average of 5.3 years after patients had fallen below the 5th percentile for height. By the time of diagnosis, patients were very short, averaging -2.9 SD in height. CONCLUSIONS: The diagnosis of TS is often delayed. We recommend karyotype analysis for all girls with unexplained short stature, delayed puberty, webbed neck, lymphedema, or coarctation of the aorta. Furthermore, karyotype analysis should be strongly considered for those who remain above the 5th percentile for height but have 2 or more features of TS, including high palate, nail dysplasia, short fourth metacarpal, and strabismus.

Nutritional rickets in African American breast-fed infants.

OBJECTIVE: To analyze the characteristics of infants and children diagnosed with nutritional rickets at two medical centers in North Carolina in the 1990s. STUDY DESIGN: The physical and radiographic findings, calcium, phosphorus, alkaline phosphatase, and 25-hydroxyvitamin D levels of infants and children diagnosed with nutritional rickets at two medical centers were reviewed. Breast-feeding data were obtained from the North Carolina Women, Infants and Children Program (WIC). RESULTS: Thirty patients with nutritional rickets were first seen between 1990 and June of 1999. Over half of the cases occurred in 1998 and the first half of 1999. All patients were African American children who were breast fed without receiving supplemental vitamin D. The average duration of breast-feeding was 12.5 months. The age at diagnosis was 5 to 25 months, with a median age of 15.5 months. Growth failure was common: length was <5th percentile in 65% of cases, and weight was <5th percentile in 43%. CONCLUSION: Factors that may have contributed to the increase in referrals of children with nutritional rickets include more African American women breast-feeding, fewer infants receiving vitamin D supplements, and mothers and children exposed to less sunlight. We recommend that all dark-skinned breast-fed infants and children receive vitamin D supplementation.