Head circumference of children with Williams-Beuren syndrome

American Journal of Medical Genetics
R PankauA Wessel

Abstract

Head circumference is considered an important parameter of brain growth and development. Syndrome-specific standards for head circumference in Williams-Beuren syndrome (WBS) are not available to date, although mental retardation is a leading manifestation in the syndrome. Therefore, we investigated head growth in 63 girls (251 measurements) and 88 boys (298 measurements) with WBS between birth and adulthood. Most measurements in both sexes were from the first 4 years of life (n = 162 in girls and n = 189 in boys). Mean (+/- SD) head circumference at birth was 33.39 +/- 1.38 cm and 34.02 +/- 1.44 cm for term girls and boys, respectively. Although head growth in WBS girls and boys was at a slower velocity, the pattern of head circumference was similar to that in the normal population. After the age of 3 months, head circumference started to fall below the normal mean in girls (0.5-2 cm). In boys, mean head circumference was below the normal mean already at 1 month of age (2 cm). The deficit increased to 3 cm from 6 months to 4 years. Adult OFC was 52.85 +/- 1.75 cm (n = 16) compared to 55.70 +/- 1.83 cm (n = 46; P < 0.00001) in WBS women and 55.51 +/- 1.68 cm (n = 30) compared to 57.87 +/- 1.29 cm (n = 31; P < 0.00001) in WBS men...Continue Reading

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Citations

Jan 20, 1997·American Journal of Medical Genetics·G BrinkmannR Pankau
Aug 23, 2000·Journal of Cognitive Neuroscience·J R KorenbergR Matsuoka
Sep 4, 2015·American Journal of Medical Genetics. Part a·Colleen A MorrisLucy R Osborne
May 19, 2012·The Journal of Urology·Zein M SammourMiguel Srougi
Oct 31, 2014·Clinical Case Reports·Livia MarcatoFrancesca R Grati
Jun 18, 2016·American Journal of Medical Genetics. Part a·Andrea HeinzChristian E H Schmelzer
May 18, 1999·Clinical Pediatrics·A LashkariJ M Graham
Oct 14, 2018·Congenital Anomalies·Sahori MatsunoKeiji Moriyama
Aug 1, 1997·Developmental Medicine and Child Neurology·A Gosch, R Pankau
Dec 22, 2006·Pró-fono : revista de atualização científica·Natalia Freitas RossiCélia Maria Giacheti
Mar 12, 2020·Journal of Applied Genetics·Amanda de Sousa Lima StrafacciGil Guerra Júnior

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