[11-12] Our patient also had a dysmorphic facial appearance and phocomelia
on the right.
Thus far, about 150 cases of different racial and ethnic backgrounds have been reported in the literature.4 The major abnormalities required to make the diagnosis of Roberts Syndrome include: mental retardation, growth retardation with prenatal onset and continuing postnatally, midline craniofacial abnormalities, tetra-hypomelia that are more prominent in the upper extremities varying from phocomelia
to simple shortness of the extremity and accompanying extremity abnormalities.2,4-6 In 2005, the disease gene was determined by Vega et al.2 All of the above findings were determined in our case.
Changes of brain--ectodermic dysplasia, ear's low implantation and exencephaly; Changes of eyes--opened eye and exophtalmus; Changes of mouth--retrognathism, micrognathia, tongue protrusion, labial-palatal fissure; Changes of limbs-retroversion and phocomelia
; Changes of paws--oligodactyly, polydactyly and sindactyly; Changes of trunk--scoliosis and lordosis.
Tri-amelia and phocomelia
with multiple malformations resembling Roberts syndrome in a fetus: is it a variant or a new syndrome?
Then obstetricians began to see an increase in babies born with phocomelia
or "seal limb," where the long bones of one or both pairs of limbs fail to develop correctly.
Furthermore, limb abnormalities found during the current study included micromelia, meromelia, Phocomelia
, limb dysplasia as well as clubbed feet.
The origin of our current pharmacovigilance systems can be traced back to the teratogenic effects of thalidomide, first reported as a series of three cases in The Lancet in 1961.1 Recognition of thalidomide's association with a variety of birth defects and, in particular, limb defects known as phocomelia
, led to the drug's withdrawal from the market.
The technical name for Maynard's birth defect is quadramembral phocomelia
, but a more common and easily pronounceable term is "congenital amputation." The precise cause of congenital amputation has not been determined, though theories abound today.
"If you look at someone like Mat Fraser, (the actor, musician and presenter born with phocomelia
caused by Thalidomide) who was hosting the event, he's lived his life without apologising for who he is and that's a very strong message to send out to people." It's this straightforwardness that has earned Cara ringing endorsements from people like Zig Zag Love's director Gillies MacKinnon.
For example, in West Germany in 1962 alone between 3500 and 5000 babies were born with phocomelia
, a deformity caused by Thalidomide.
Vujicic, from Melbourne, enjoys everything other lads his age do - playing football, swimming, and surfing, and while doctors know the condition is caused by a rare occurrence called Phocomelia
, not much else is known about why it happened to him.
This effect is not a mutation and the same can probably be said about phocomelia