ea0011oc41 | Endocrine genetics | ECE2006
Clayton PE
, OSullivan L
, Glaser A
, Oliveira MH
, de Alacantara MRS
, de Almeida Barretto ES
, Kingston H
, Read A
, Cormier-Daire V
, Scambler PJ
, Black G
3M syndrome is characterised by severe intra-uterine and post-natal growth failure. Patients have a characteristic triangular facial appearance and disproportionate short stature with tall vertebral bodies and over-tubulation of long bones. The condition bears some resemblance to the Russell Silver syndrome, but is transmitted as an autosomal recessive trait. It has been proposed that heterozygous carriers demonstrate mild phenotypic manifestations of the condition.<p clas...