RESUMEN
Accelerated growth and advanced bone age are consistent findings in Weaver-Smith syndrome (WSS). According to the rather scant reports in the literature, persons afflicted with WSS appear to achieve supranormal heights despite a significant bone age advancement in their growth period. The literature does not state clearly whether there is a discrepancy between bone age advancement and the time of onset of puberty in WSS. We report a girl with Weaver syndrome whose final height predictions were within normal limits according to the standard prediction models, who had to be eventually treated with high doses of estrogen in order to keep her final height within reasonable limits. We conclude that the pattern of growth and maturation in children with WSS may form an exception to the general rule that tall children with an advanced bone age mature early and thus attain a normal final height. A careful evaluation of growth data of other children with WSS is necessary to clarify this issue.
Asunto(s)
Anomalías Múltiples/patología , Estatura , Anomalías Craneofaciales/patología , Trastornos del Crecimiento/patología , Niño , Femenino , Deformidades Congénitas de la Mano/patología , Humanos , Valor Predictivo de las Pruebas , PronósticoRESUMEN
Two infants, a girl, aged four weeks, and a boy, aged three weeks, came to our attention with poor feeding and weight loss. Later the typical cough of pertussis appeared. Serological testing confirmed that both patients' mothers had recently had pertussis. One mother suffered from severe and typical coughing periods even throughout labour. Despite the vaccination program in the Netherlands, each year new-born infants with pertussis require hospitalisation. Pertussis during the neonatal period is seldom described. Adults can suffer from pertussis, even when they have been vaccinated in childhood. They then become contagious for unvaccinated infants. Pertussis during the neonatal period is an insidious disease with sometimes severe complications. If pertussis is suspected in mothers with new-born infants or pregnant women towards the end of the pregnancy, they should be treated with antibiotics to prevent pertussis in the new-born infant.
Asunto(s)
Infecciones por Bordetella/diagnóstico , Infecciones por Bordetella/transmisión , Bordetella pertussis/aislamiento & purificación , Transmisión Vertical de Enfermedad Infecciosa , Tos Ferina/diagnóstico , Tos Ferina/transmisión , Adulto , Infecciones por Bordetella/epidemiología , Infecciones por Bordetella/microbiología , Tos/microbiología , Diagnóstico Diferencial , Femenino , Humanos , Recién Nacido , Enfermedades del Recién Nacido/diagnóstico , Masculino , Países Bajos/epidemiología , Vacuna contra la Tos Ferina/inmunología , Embarazo , Complicaciones Infecciosas del Embarazo/diagnóstico , Tos Ferina/complicaciones , Tos Ferina/epidemiología , Tos Ferina/inmunologíaAsunto(s)
Errores Innatos del Metabolismo de los Carbohidratos/complicaciones , Hipotonía Muscular/congénito , Distrofia Miotónica/diagnóstico , Atrofias Musculares Espinales de la Infancia/diagnóstico , Errores Innatos del Metabolismo de los Carbohidratos/diagnóstico , Diagnóstico Diferencial , Femenino , Humanos , Recién Nacido , Masculino , Hipotonía Muscular/etiología , Distrofia Miotónica/complicaciones , Atrofias Musculares Espinales de la Infancia/complicacionesRESUMEN
Two male patients from one family are reported, who are affected with congenital hydrocephalus, mental retardation, short stature, obesity and hypogenitalism. Most probably the mode of inheritance is X-linked recessive.