Inactivating mutations in ESCO2 cause SC
phocomelia and Roberts syndrome: no phenotype-genotype correlation.
Tetra-
phocomelia with multiple malformations: X-linked amelia, or Roberts syndrome, or DKphocomelia syndrome?
Phocomelia can be caused by a genetic abnormality, but it is rare.
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.
The cute sounding Menke Kinky Hair Syndrome (steel-wool like hair), Angelman (recurrent bouts of laughter) and Cornelia de Lang (synophrys,
phocomelia) were among "Visual Clues that suggest Birth Defects and Genetic Conditions" (p.
The most renowned result was
Phocomelia, the name given to the flipper-like limbs which appeared on the children of women who took Thalidomide.
Ms Lapper, who has a condition called
phocomelia, said disabled people faced a great deal of discrimination in their search for a job and needed more support from the business world and the government.
"The most renowned result was
Phocomelia, the name give to the flipper-like limbs which appeared on the children of women who took Thalidomide."
Women with spina bifida, spinal-cord injury (SCI), and multiple sclerosis (MS) as well as those with transverse myelitis, severe rheumatoid arthritis, myasthenia gravis, cerebral palsy, acondroplasia, Wilson's disease,
phocomelia, osteogenesis imperfecta, and hearing and visual impairments have received services.
The son she gave birth to, whom she named Kim Byung Chul, had a congenital birth defect,
phocomelia, which left him without a pelvis or legs.
The authors of the Institute of Medicine report discuss marijuana as if it were a drug like thalidomide, with well-established serious toxicity (
phocomelia) and limited clinical usefulness (leprosy).
Thalidomide, originally used as an over-the-counter preparation for morning sickness, was taken off the world market in the 1960s after the appearance of
phocomelia and other birth defects in the offspring of women who used the drug.