Limb defects observed in this study were limb displacement, meromelia, phocomelia
and extension of limbs which were parallel to the study of Memon and Pratten (2013).
11-12] Our patient also had a dysmorphic facial appearance and phocomelia
on the right.
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.
with multiple malformations: X-linked amelia, or Roberts syndrome, or DKphocomelia syndrome?
can be caused by a genetic abnormality, but it is rare.
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.
For example, in West Germany in 1962 alone between 3500 and 5000 babies were born with phocomelia
, a deformity caused by Thalidomide.
3) (279-282) * Brachymesomelia-renal-syndrome (283) * Short rib-polydactyly syndromes (9,284) * Asphyxiating thoracic dystrophy syndrome (Jeune syndrome) (tub 132,285,286) * Zellweger cerebrohepatorenal syndrome (tub 132,133,285,287) * Familial juvenile nephronophtisistub (chronic progressive tubulointerstitial disease) (288) * Trisomy 9 (tub 13), 13 (tub 13,285,289), 13-15 (tub 4,18,19,290), 18 (tub 147), 21 (Down syndrome) (case 14) * Congenital nephritic syndrome (tub) * OEIS complex (291) * MODY5 (292) * Cornelia de Lange syndrome (tub) * Marden-Walker syndrome (tub) * Phocomelia
syndrome (Pseudothalidomide syndrome) (tub) * Smith-Lemli-Opitz syndrome (tub) ** Finnish type of infantile nephrotic syndrome (NPHS, nephrin, autosomal recessive) (37) b.
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
Phenothiazines None known Muscle rigidity, hypothermia, tremor Sedatives None known Depression, slow learning Thalidomide * Phocomelia
in None known 20% of cases Tricyclics None known None known Zolpiden Unknown Withdrawal or floppy infant (?
Documented examples of disease of environmental origin in children include phocomelia
in infants exposed in utero to thalidomide (Lenz and Knapp 1962); adenocarcinoma of the vagina in girls exposed prenatally to diethylstilbestrol (Herbst et al.