RESUMEN
We report on 5 sibs (4 males, 1 female) with growth retardation, severe pelvic hypoplasia, arthrogrypotic changes and muscular hypotrophy of the lower limbs, and mild vertebral changes of prenatal onset. To our knowledge, this syndrome has not yet been reported. The family history suggests autosomal-recessive inheritance.
Asunto(s)
Artrogriposis/genética , Retardo del Crecimiento Fetal/genética , Deformidades Congénitas de las Extremidades/genética , Pelvis/anomalías , Adolescente , Adulto , Niño , Contractura/genética , Femenino , Deformidades Congénitas del Pie/genética , Genes Recesivos , Humanos , Masculino , Linaje , Pelvis/diagnóstico por imagen , RadiografíaRESUMEN
A mother and a daughter affected with multiple trichoepithelioma were studied. The age of onset of the symptomatology in both was 7-years-old, the daughter being more severely affected than the mother at this age. This early age of onset is an exceptional observation which could be explained by maternal imprinting.
Asunto(s)
Aberraciones Cromosómicas/genética , Neoplasias Faciales/genética , Genes Dominantes/genética , Neoplasias Basocelulares/genética , Neoplasias Primarias Múltiples/genética , Síndromes Neoplásicos Hereditarios/genética , Neoplasias Cutáneas/genética , Adulto , Niño , Trastornos de los Cromosomas , Femenino , Expresión Génica/fisiología , Humanos , FenotipoRESUMEN
An 8-year-old male patient presented a unique pattern of congenital anomalies. Prominent findings included a combination of severe osteoporosis and congenital oculocutaneous hypopigmentation. The patient may represent a hitherto undescribed syndrome of unknown etiology.