phocomelia


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phocomelia

 [fo″ko-me´le-ah]
congenital absence of the proximal portion of a limb or limbs, the hands or feet being attached to the trunk by a small, irregularly shaped bone. adj., adj phocome´lic.

pho·co·me·li·a

, phocomely (fō'kō-mē'lē-ă, fō-kom'ĕ-lē),
A type of meromelia; defective development of arms or legs, or both, so that the hands and feet are attached close to the body, resembling the flippers of a seal.
[G. phōkē, a seal, + melos, extremity]

phocomelia

(fō′kō-mē′lē-ə, -mēl′yə)
n.
A birth defect in which the upper portion of a limb is absent or poorly developed, so that the hand or foot attaches to the body by a short, flipperlike stump.

phocomelia

Teratology A congenital malformation characterized by attachment of a hand to the shoulder or foot to the pelvis, imparting a seal flipper appearance, classically associated with exposure of a developing fetus to thalidomide. See Thalidomide.

pho·co·me·li·a

, phocomely (fō'kō-mē'lē-ă, fō-kom'ĕ-lē)
Defective development of the upper or lower limbs, or both, so that the hands and feet are attached close to the body, resembling the flippers of a seal.
[G. phōkē, a seal, + melos, extremity]

phocomelia

A major, congenital limb defect featuring absence of all long bones so that the hands or feet are attached directly to the trunk and resemble flippers. Spontaneous cases of phocomelia are rare but the condition occurred in many children whose mothers were given thalidomide early in their pregnancy.
References in periodicals archive ?
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.