ABSTRACT
Three patients who presented cloverleaf skull are described. The first one associated with tanatophoric dwarfism, the second case was an isolate anomaly and the third one was associated with facial fissures. The three patients showed the outstanding diversity of the clinic manifestations encountered in this entity. The findings at central nervous system level, by computarized tomographic and ultrasonographic studies, are described. The relevance of genetic counselling is emphasized.
Subject(s)
Abnormalities, Multiple , Bone and Bones/abnormalities , Skull/abnormalities , Abnormalities, Multiple/diagnostic imaging , Bone and Bones/diagnostic imaging , Female , Humans , Infant, Newborn , Male , Skull/diagnostic imaging , Tomography, X-Ray Computed , UltrasonographySubject(s)
Abnormalities, Multiple , Rectum/abnormalities , Anal Canal/abnormalities , Female , Humans , Infant, Newborn , Male , Urogenital AbnormalitiesABSTRACT
Se describen dos hermanos, nino y nina con los signos clinicos caracteristicos del sindrome de Bardet-Biedl: retraso mental, obesidad, polisindactilia, hipogenitalismo y retinitis pigmentosa.Se discute el diagnostico diferencial con outras entidades que cursan con sobrepeso, como sindrome de Laurence-Moon, Alstrom, Biomond II y Prader-Willi, y se hace enfasis en el asesoramiento genetico y en la importancia de conocer la historia natural de padecimiento con fines pronosticos
