Scopul nostru este sprijinirea şi promovarea cercetării ştiinţifice şi facilitarea comunicării între cercetătorii români din întreaga lume.
Autori: M. Gafencu, G. Doros, M. Puiu, I. Micle, A. Popoiu, M. Serban
Editorial: European Journal of Human Genetics, 2005.
Laurence-Moon-Bardet-Biedl syndrome has as principal abnormalities: obesity, mental deficiency, polydactyly and/or syndactyly, retinitis pigmentosa, genital hypoplasia or both, and has an autosomal recessive transmission. We present the case of a 16 year old boy, who was admitted to our clinic because of cyanosis, especially on effort, dyspnea and fatigue. On clinical examination, we noted an obese child, grade III, 82 kg, with cyanotic congenital heart defect, Fallot disease, oxygen saturation 64%, polydactyly (of the 1st metacarpal and phalanges) of the left hand, and radio-cubital synostosis of the same hand, with reduction in pronation-supination movement, moderate mental deficiency (IQ 69), anterior hypospadias, bilateral cryptorchidism, hypoplastic scrotum, micropenis with hypogonadism, and hirsutism. The insulin level was normal; FSH and LH hormone were much than normal, and the testosterone levels corresponded with Tanner Stage 4. The boy did not have retinitis pigmentosa, only myopic astigmatism. We considered the possibility of a diagnosis of Holt Oram syndrome, but all the associated abnormalities, except the skeletal and cardiovascular ones, are found mainly in Laurence-Moon-Bardet-Biedl syndrome. In conclusion, complex abnormalities needs complex investigations and collaboration between the specialities, under the cover of the genetic consultation, early in childhood, to prevent and correct problems as far as possible.
Cuvinte cheie: Laurence-Moon-Bardet-Biedl, Holt Oram syndrome, complex abnormalities