RESUMO
No disponible
Assuntos
Humanos , Diagnóstico Pré-Natal/métodos , Doenças Fetais/diagnóstico , Aneuploidia , Hibridização in Situ Fluorescente , Reprodutibilidade dos TestesRESUMO
La Fundació Catalana Síndrome de Down (FCSD) publicó en 1998 las primeras curvas de crecimiento de niños y adolescentes con Síndrome de Down (SD) de nuestro país. En las presentes curvas se utiliza una metodología estadística más adecuada que asegura una mayor exactitud y precisión; también se incluyen muchas más mediciones efectuadas desde entonces. Para su elaboración se han utilizado un total de 1.736 mediciones, desde el nacimiento hasta los 15 años exactos, descartándose 18 por tratarse de valores erróneos. De las 1.718 mediciones restantes, 763 (44,4%) corresponden a mujeres y 955 (55,6%) a hombres. En el análisis del crecimiento en longitud/talla se demuestra un patrón parecido entre niños y niñas alcanzando una máxima diferencia hacia la adolescencia. Con relación al peso se comprueba una gran variabilidad y dispersión que aumenta con la edad, especialmente a partir de la edad escolar
The Fundació Catalana Síndrome de Down (FCSD) published in 1998 the first growth charts based on Downs syndrome children from our country. The new charts are made using a statistically more specific methodology; it makes these charts more accurate and precise. There are also included more measurements taken since then. A total of 1,736 measurements has been used to make the charts, from birth to 15 years old exactly, 18 wrong values wore rojected. From the remaining 1,718 measurements, 763 (44.4%) were in females and 955 (55.6%) in males. In the analysis of length/height we can see a similar pattern between boys and girls, the maximum difference between both groups is in the adolescence time. There is a great variability in relation to the weight, the dispersion between males and females increases with the age, especially from the school age on
Assuntos
Masculino , Feminino , Lactente , Criança , Pré-Escolar , Adolescente , Humanos , Síndrome de Down , Crescimento , Cefalometria/métodos , Pesos e Medidas Corporais/normas , Valores de ReferênciaRESUMO
A male child has been identified with Angelman syndrome. He has been shown to carry a de novo Robertsonian 15/15 translocation where both chromosome 15s have been derived from the father. Consequently the disease in this instance is due to paternal uniparental disomy.
Assuntos
Síndrome de Angelman/genética , Cromossomos Humanos Par 15 , Impressão Genômica , Translocação Genética , Pré-Escolar , Humanos , Masculino , LinhagemRESUMO
Hay and Wells in 1976 reported seven patients from four families who had an inherited condition of which the main features were ankyloblepharon, ectodermal defects, and cleft lip and palate. The inheritance pattern was determined to be autosomal dominant. This condition is known as AEC syndrome or Hay-Wells syndrome. We report a family with two sibs showing some of these features and congenital adhesions between the upper and lower jaws (alveolar synechiae). There seems to be a recessive pattern of inheritance as neither of the parents has any features of the syndrome. This could be described as a recessive form of Hay-Wells syndrome with additional features or be named as a new syndrome.
Assuntos
Anormalidades Múltiplas , Fenda Labial , Fissura Palatina , Displasia Ectodérmica , Pálpebras/anormalidades , Anormalidades Maxilomandibulares , Feminino , Genes Recessivos , Humanos , Lactente , Masculino , SíndromeRESUMO
We report on a family in which 3 sibs have Roberts/SC phocomelia syndrome. One child has survived to age 9 years. The clinical manifestations and the natural history of this syndrome are reviewed.
Assuntos
Anormalidades Múltiplas/genética , Ectromelia/genética , Centrômero/patologia , Criança , Consanguinidade , Craniossinostoses/genética , Feminino , Humanos , Recém-Nascido , Deficiência Intelectual/genética , Masculino , SíndromeRESUMO
Digital and palmar dermatoglyphic patterns of 155 children with cryptorchidy has been studied. Results were compared to two control groups of Spanish normal population. 50 and 300 males respectively, showing the following statistically significant differences: 1. High incidence of whorls (37.4% vs. 22.2% and 29.5%) and low frequency of ulnar loops (51.5 vs. 66.4 0 and 60.8%) on fingers. 2. Frequent recurrence of some digital patterns, with a higher frequency of accumulated whorls and lower frequency of accumulated ulnar loops. 3. Increased amplitude of atd angle. 4. No differences in finger ridge count or ab ridge count.
