The first generation of IMiDs drew attention mostly because of the reports of deformed infants with phocomelia
; the growth of limbs has been restricted due to the deficiency of new blood capillaries.
Thalidomide and phocomelia
. Pediatrics 1962; 30(4):654-659.
Rosie was born with phocomelia
, meaning she has two fingers on each shoulder plus shortened legs, two small feet and 13 toes.
The fetus had dysmorphic facial features, a depressed nasal bridge, synophrys, a wide frenulum, hirsutism, low-set ears, ectrodactyly in the left hand and phocomelia
on right (Figs 1 and 2).
Sociodemographic properties of the disabled children Mean[+ or -]SD Age (years) 9.56[+ or -]7.23 Height (cm) 118.31[+ or -]25.32 Weight (kg) 26.84[+ or -]15.44 Gender n (%) Female 57(39.3) Male 88(60.7) Diagnosis n (%) Cumulative % Cerebral palsy 63(43.4) 43.4 Spina bifida 16(11) 54.4 Mental retardation 15(10.3) 64.7 Epilepsy 10(6.9) 71.6 Muscle disease 9(6.3) 77.9 Down syndrome 9(6.2) 84.1 Autism-attention deficit hyperactivity 8(5.5) 89.6 Developmental retardation 5(3.4) 93 Brachial plexus palsy 3(2.1) 95.1 Learning difficulty 3(2.1) 97.2 Hearing defect 1(0.7) 97.9 Speech disorder 1(0.7) 98.6 Congenital hip dislocation 1(0.7) 99.3 Congenital phocomelia
1(0.7) 100 Cumulative %: cumulative frequency value; Mean[+ or -]SD: mean[+ or -]standard deviation Table 2.
Congenital causes include phocomelia
and dysgenetic syndromes.
other anomalies.12 The most common association is radial deficiency of varying degrees.35 Thumb agenesis accompanies Holt-Oram syndrome (OMIM-142900) VACTERL association (OMIM-192350) phocomelia
Seckel syndrome (OMIM-210600) thrombocytopenia-absent radius syndrome(OMIM-274000) Fanconi anemia (OMIM-227650)and Duane-radial ray syndrome (OMIM-607323).
In contrast to thalidomide, where many lines of evidence have shown that the drug caused phocomelia
malformations (see Henning Sjostrom & Robert Nilsson, Thalidomide and the Power of the Drug Companies (Harmondsworth: Penguin, 1972) at 156-59), no causal link has ever been scientifically established between Bendectin and birth defects.
Here, we present a case of Roberts Syndrome brought to the clinic with diarrhoea and multiple abnormalities, that had tetra phocomelia
, growth and developmental retardation, abnormality of complete cleft lip-palate accompanied with Aortic stenosis and PDA, and in which cytogenetic analysis identified premature centromere separation.
Teratogenesis is derived from Greek word teratogen, an agent that has capability to induce malformations such as anencephaly, phocomelia
, cleft palate and other morphological nonreversible changes at time of birth (Tuchmann-Duplessis, 1987).Euphorbia helioscopia, belongs to medicinally rich family Euphorbiaceae, is an annual weed and used as folk medicine to treat warts in various parts of Pakistan.
Mat was born with congenital phocomelia
, caused by exposure to the drug thalidomide.
The changes in brain (ectodermic dysplasia, ear's low implantation and exencephaly), limbs (retroversion and phocomelia
) and trunk (scoliosis and lordosis) were not significant.
Adopted at the age of three, Safiya was brought up fully aware of some stark realities, including her congenital disorder, phocomelia
. Unlike most parents who would choose to shield their children from the world and conA[degrees] stantly remind them about their limitations, Sabah brought up Safiya showing her that if she set her mind to it, anything was possiA[degrees] ble.
Ms Lapper, who herself lives with significant limb deficiencies (phocomelia
), is best known for the statue depicting her nude and pregnant, that was unveiled on the fourth plinth in London's Trafalgar Square.
Thousands of babies were born with characteristic limb deformities known as phocomelia