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27 Cards in this Set
- Front
- Back
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Klippel-Fiel Sequence
-type of defect |
fused cervical vertebrae
short neck rare, recessive (defect of abnormal regionalization) |
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Sacralized and Lumbarized Vertebrae (type of defect)
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Patterning Defect (Hox genes)
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Scoliosis
(type of defect) |
abnormal lateral curve of the spine
(assymetry defect of the spine) |
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Kyphosis and Lordosis
type of defect |
exaggeration of primary curves of the spine
(assymetry defect of the spine) |
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Dysraphism
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failure of fusion of the neural arches, vertebral colum doesn't close....
Rachischisis-open spine (many vertebrae fai to fuse) Spina Bififida (one or a few vertebrae fail to fuse) |
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mildest form of Dysraphism
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Spina Bifida Occulta
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most common site of accessary and fused ribs
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lumbar region
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Dysraphic
(Acrania) |
open cranium or open skull- absence of opening between calvaria bones..
absense of calvaria |
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Craniosynotosis
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(Suture defect)
sutures close too early skull assymetry growth occurs parallel to closed suture asociated with FGF Receptor 1 and 2 genes |
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Craniofacial Dysotosis
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all sutures involved in Craniosynotosis
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Cloverleaf Skull
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worst form of Craniosynotosis
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Apert's- acrocephalosyndactlyly
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tall skull and fingers fused together
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Micrcsephaly (specific)
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small head
small calveria-normal size fact |
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Macrocephaly is due to
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excess bone thickness
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Cleidocranial Dsyplasia
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no clavicles (aplasia)
decreased size of clavicles (hypoplasia) |
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Sprengel Anomaly
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scapula at C4-T2 (elevation)
shoulder affected |
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Achondroplasia
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Interference with EPIPHYSEAL PLATES (2 Ossification Center)
autosomal dominant interference with epiphyseal plate development shortened extremities problem with cartilage, but flat bones continue to grow normally exaggerated forehead and small mid face FGF Receptor 3 Gene |
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Marfan Syndrome
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Defect in FIBRILLIN production
spider-like elongated digits |
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Mucopolysaccharidoses
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Lysosomal Storage disorder
-chronic progressive multisystem deterioration with distortions of face and skull |
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Osteogenesis Imperfecta
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Type I Collagen defect
Brittle Bones |
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Hyperpituitarism
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overproduction of GROWTH HORMONE
before plate closure- gigantisism after plat closure- Acromegaly (enlargement of soft tissues and forehead) |
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Hypothyroidism
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pituitary dwarf (cretinism)
mental retardation and skeletal and growht anomolies |
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Poland Syndrome
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absense of muscle....most common-Pectoralis Major
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Prune Belly Syndrome
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abdominal muscles absent
bladder defects |
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Congenital Torticollis (muscular Wryneck)
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shortening of Sternocleidomastoid
head tilted to side birth trauma |
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Muscular Dystrophy
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progressive deterioration of skeletal muscle
WITHOUT CNS or PNS Involvement |
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Duchene
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Type of Muscular Dystrophy
X linked lack DYSTROPHIN |
