Evaluation of short and tall stature in children.
ABSTRACT Children and adolescents whose heights and growth velocities deviate from the normal percentiles on standard growth charts present a special challenge to physicians. Height that is less than the 3rd percentile or greater than the 97th percentile is deemed short or tall stature, respectively. A growth velocity outside the 25th to 75th percentile range may be considered abnormal. Serial height measurements over time documented on a growth chart are key in identifying abnormal growth. Short or tall stature is usually caused by variants of a normal growth pattern, although some patients may have serious underlying pathologies. A comprehensive history and physical examination can help differentiate abnormal growth patterns from normal variants and identify specific dysmorphic features of genetic syndromes. History and physical examination findings should guide laboratory testing.
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ABSTRACT: Resumo Os adolescentes que apresentam uma estatura inferior ao percentil 3 serão, na sua maioria, saudáveis, mas alguns terão uma etiologia patológica para a sua baixa estatura. Apresentam-se dois casos de baixa estatura, nos quais foi encon-trado um exame citogenético anormal. Apesar das alterações genéticas serem uma causa rara de baixa estatura, o cariótipo deve fazer parte da investigação preliminar de baixa estatura no sexo feminino. A sua identificação, de modo a obter um diagnóstico preciso, foi importante para orientar o tratamento médico e para oferecer um prognóstico e aconselhamento às adolescentes e suas famílias. Palavras-chave: baixa estatura, cromossomopatia, dismorfismos Acta Pediatr Port 2013;44(6):330-2 Short stature as a manifestation of chromossomopathy – two cases. Abstract Adolescents who have a height below the 3rd percentile are mostly healthy, but some will have a pathological etiology for their short stature. We present two cases of short stature with abnormal cytogenetic findings. Despite genetic altera-tions are a rare cause of short stature, karyotyping should be part of the preliminary investigation of short stature in girls. Its identification in order to obtain an accurate diagnosis was important to guide medical treatment and to offer a prognosis
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ABSTRACT: The health consequences of lactose intolerance (LI) are unclear. To investigate the effects of LI on stature and vitamin D status. LI subjects will have similar heights and vitamin D status as controls. Prepubertal children of ages 3-12 years with LI (n=38, age 8.61 ± 3.08y, male/female 19/19) were compared to healthy, age- and gender-matched controls (n=49, age 7.95±2.64, male/female 28/21). Inclusion criteria: prepubertal status (boys: testicular volume <3cc; girls: Tanner 1 breasts), diagnosis of LI by hydrogen breath test, and no history of calcium or vitamin D supplementation. Vitamin D deficiency was defined as 25-hydroxyvitamin D [25(OH)D] <50 nmol/L. Gender-adjusted midparental target height (MPTH) z-score was calculated using NCHS data for 18 year-old adults. Data were expressed as mean ± SD. There was no significant difference in 25(OH)D between the LI and non-LI subjects (60.1±21.1, vs. 65.4 ± 26.1 nmol/L, p = 0.29). Upon stratification into normal weight (BMI <85(th) percentile) vs. overweight/obese (BMI ≥85(th) percentile), the normal weight controls had significantly higher 25(OH)D level than both the normal weight LI children (78.3 ± 32.6 vs. 62.9 ± 23.2, p = 0.025), and the overweight/obese LI children (78.3±32.6 vs. 55.3±16.5, p = 0.004). Secondly, there was no overall difference in height z-score between the LI children and controls. The normal weight LI patients had similar height as normal controls (-0.46 ± 0.89 vs. -0.71 ± 1.67, p = 0.53), while the overweight/obese LI group was taller than the normal weight controls (0.36 ± 1.41 vs. -0.71 ± 1.67, p = 0.049), and of similar height as the overweight/obese controls (0.36 ± 1.41 vs. 0.87 ± 1.45, p = 0.28). MPTH z-score was similar between the groups. Short stature and vitamin D deficiency are not features of LI in prepubertal children.PLoS ONE 10/2013; 8(10):e78653. DOI:10.1371/journal.pone.0078653 · 3.53 Impact Factor