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Introduction: Angelman syndrome (AS) is a rare, genetic, neurodevelopmental disorder characterized by severe impairments in speech, cognition, and motor skills accompanied by unique behaviors, distinct facial features, and high prevalence of epilepsy and sleep problems. Despite some reports of short stature among AS patients, this feature is not included in the clinical criteria defined in 2005. We investigated growth patterns among AS patients with respect to mutation type, growth periods, family history, and endocrine abnormalities. Methods: Data were collected from patients' medical files in AS National Clinic. Mutation subtypes were divided to deletion and non-deletion. Four growth periods were defined: preschool, childhood, peak height velocity, and final height. Results: The cohort included 88 individuals (46 males), with 54 (61.4%) carrying deletion subtype. A median of 3 observations per individual produced 280 data points. Final height SDS was significantly lower compared to general population (−1.23 ± 1.26, p < 0.001), and in deletion group versus non-deletion (−1.67 ± 1.3 vs. −0.65 ± 0.96, p = 0.03). Final height SDS was significantly lower compared to height SDS in preschool period (−1.32 vs. −0.47, p = 0.007). Patient's final height SDS was significantly lower than the parents' (∆final-height SDS = 0.94 ± 0.99, p = 0.002). IGF1-SDS was significantly decreased compared to general population (−0.55 ± 1.61, p = 0.04), with lower values among deletion group (−0.70 ± 1.44, p = 0.01). Conclusions: AS patients demonstrate specific growth pattern with deceleration during childhood and adolescence, resulting in significantly decreased final height compared to normal population, and even lower among deletion subgroup, which could be attributed to reduced IGF1 levels. We propose adding short stature to the clinical criteria and developing adjusted growth curves for AS population. [ABSTRACT FROM AUTHOR]

Background Hypercalcemia is caused by many different conditions and may lead to severe complications. Loss-offunction mutations of CYP24A1, encoding vitamin D-24-hydroxylase, have recently been identified in idiopathic infantile hypercalcemia and in adult kidney stone disease. The aim of this study was to investigate the genetics and clinical features of both infantile and maternal hypercalcemia. Methods We studied members of four unrelated Israeli families with hypercalcemia, namely, one woman during pregnancy and after delivery and three infants. Clinical and biochemical data were obtained from probands' medical charts. Genomic DNA was isolated from peripheral blood and CYP24A1 was sequenced. Results Typical symptoms of hypercalcemia associated with the intake of recommended doses of vitamin D developed in the infants and pregnant woman. Four different loss-of-function CYP24A1 mutations were identified, two of which are reported here for the first time (p.Trp134Gly and p.Glu315*). The infants from families 1 and 2, respectively, were found to be compound heterozygotes, and the infant from family 3 and the pregnant woman were found to be homozygous. Conclusions This is the first report of maternal hypercalcemia caused by a CYP24A1 mutation, showing that not only infants are at risk for this complication. Our findings emphasize the importance of recognition, genetic diagnosis and proper treatment of this recently identified hypercalcemic disorder in this era of widespread vitamin D supplements. Keywords CYP24A1 * Hypercalciuria * Infantile hypercalcemia * Maternal hypercalcemia * Nephrocalcinosis * Nephrolithiasis * Vitamin D, Introduction Hypercalcemia is caused by many different conditions, including primary hyperparathyroidism, cancer, granulomatous diseases (e.g. sarcoidosis), drugs (e.g. thiazides) and a high intake of calcium and/or vitamin D. In the [...]

Objective. To assess growth retardation in male adolescent patients who have a diagnosis of anorexia nervosa (AN) and the effect of weight restoration on catch-up growth. Methods. Medical charts of all male adolescent AN patients (n = 12) who were admitted to the Pediatric Psychosomatic Department at the Sheba Medical Center from January 1, 1994, to December 31, 1998, were reviewed. Height and weight measurements were obtained before the onset of AN, at admission, and thereafter routinely during hospitalization and follow-up. Results. Eleven patients exhibited growth retardation during the course of their illness, as evident in a decrease in their height standard deviation score (SDS). The mean height SDS at the time of admission (-0.81 [+ or -] 0.93) was significantly lower than the premorbid SDS (-0.21 [+ or -] 0.91). Weight restoration resulted in accelerated linear growth (up to 2 cm/mo) in all patients. Positive weight gain (weight gain rate >1 kg/y) was associated with a mean height gain of 6.97 [+ or -] 6.48 cm/y, whereas weight loss or failure to gain weight (weight gain rate [less than or equal to] 1 kg/y) was associated with a mean of 2.7 [+ or -] 3.9 cm/y. This between-group difference was highly significant. Complete catch-up growth was not achieved in 9 of 12 patients. There was a trend for the mean adult final height SDS (-0.52 [+ or -] 0.84) to be higher than the admission height SDS but lower than both the premorbid height SDS and the midparental target height SDS (-0.21 [+ or -] 0.79). Conclusions. Linear growth retardation was a prominent feature of AN in our sample of male adolescent patients, preceding, in some cases, the reported detection of the eating disorder. Weight restoration, particularly when target weight is based on the premorbid height percentile, may be associated with significant catch-up growth, but complete catch-up growth may not be achieved. Pediatrics 2003;111:270-276; anorexia nervosa, growth failure, final height, malnutrition, male., ABBREVIATIONS. AN, anorexia nervosa; DSM-IV, Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition; SDS, standard deviation scores; IBW, ideal body weight. The need for adequate caloric intake, weight gain, [...]

Aim: Children with inflammatory bowel disease (IBD) are prone to low bone mineral density (BMD). Our aim was to assess longitudinal changes in BMD in this population.Methods: A retrospective longitudinal study of children with IBD, treated at two tertiary centres in Israel, who underwent two BMD measurements by dual-energy X-ray absorptiometry (DXA). Changes in lumbar spine BMD (∆L1-4 z-scores) were examined for correlations with clinical characteristics.Results: The cohort included 41 patients (age at diagnosis 12.1 ± 3.5 years, 23 females).The mean interval between the scans was 3.4 ± 2.0 years. There was a trend towards improvement in L1-4 z-scores (-1.64 ± 1.02 vs -1.45 ± 0.83, P = .12). ∆L1-4 z-scores correlated positively with ∆weight-standard deviation scores (SDS), ∆height-SDS and ∆BMI-SDS, and with age at the second scan (R = .55, P < .01; R = .42, P < .01; R = .42, P = .01; R = .35, P = .02, respectively); and negatively with L1-4 z-scores at the first scan (R = -.63, P < .01). Stepwise linear regression analysis identified the first scan L1-4 z-scores and ∆weight-SDS as independent predictors of ∆L1-4 z-scores. An L1-4 z-score ≤-2 at the first DXA scan was associated with significant improvement at the second scan.Conclusion: Improvement in BMD was more pronounced in children who gained weight or whose BMD was low at the first scan. [ABSTRACT FROM AUTHOR]