This was a prospective, longitudinal and descriptive study of 117 Mexican girls with Turner's syndrome (TS) followed from diagnosis to 18 years old. Height, weight and growth velocity were evaluated every 4-6 months, and bone age was assessed annually. Adult height was reached in 87 girls. All the girls were treated during 1 year with conjugated estrogens at bone age of 12 years, and subsequently with mixed estrogen/progestogen. Growth retardation in girls with TS is apparent at birth (2.7 +/- 0.9 kg and 46.3 +/- 5.0 cm) and in childhood, but becomes most marked when puberty would normally occur. Mean growth velocity was less than 25th percentile from birth to 2 years, less than 10th percentile between 3-9 years, and less than 3rd percentile from 10 to 18 years of age. Final adult height was 136.9 +/- 5.5 cm, but it is affected by the particular karyotype: 46,Xi(Xq): 134.5 cm, 45,XO: 137.3 cm, and 45XO/46,XX: 139 cm.

ANTECEDENTES: La displasia acromandibular (MAD) es un desorden autosómico recesivo caracterizado por hipoplasia mandibular y clavicular, acroosteólisis y lipodistrofia. La MAD se clasifica en dos tipos: con fenotipos diferentes que dependen del gen mutado, ya sea LMNA o ZMPSTE24; cuando el fenotipo es de inicio temprano, el gen frecuentemente mutado es el gen ZMPSTE24, el cual se asocia al tipo B. Los principales diagnósticos diferenciales por considerar son los síndromes progeroides. Es necesario realizar estudio de exoma en búsqueda de mutaciones de ambos genes reportados, ya sea para confirmar el diagnóstico clínico o para descartarlo.CASO CLÍNICO: Femenino de 7 meses de edad con hipoplasia mandibular, lipodistrofia e hiperpigmentación, que sugiere el diagnóstico de displasia acromandibular de aparición temprana.CONCLUSIONES: Esta entidad requiere de un abordaje integral en un hospital de tercer nivel con seguimiento estrecho de pediatras, ya que las complicaciones en estos pacientes derivan en muerte prematura. Se deben conocer fenotipos progeroides para sospecharlos y diagnosticarlos.