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27 Cards in this Set

  • Front
  • Back
Klippel-Fiel Sequence

-type of defect
fused cervical vertebrae
short neck
rare, recessive

(defect of abnormal regionalization)
Sacralized and Lumbarized Vertebrae (type of defect)
Patterning Defect (Hox genes)
(type of defect)
abnormal lateral curve of the spine

(assymetry defect of the spine)
Kyphosis and Lordosis

type of defect
exaggeration of primary curves of the spine

(assymetry defect of the spine)
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)
mildest form of Dysraphism
Spina Bifida Occulta
most common site of accessary and fused ribs
lumbar region
open cranium or open skull- absence of opening between calvaria bones..

absense of calvaria
(Suture defect)
sutures close too early
skull assymetry
growth occurs parallel to closed suture
asociated with FGF Receptor 1 and 2 genes
Craniofacial Dysotosis
all sutures involved in Craniosynotosis
Cloverleaf Skull
worst form of Craniosynotosis
Apert's- acrocephalosyndactlyly
tall skull and fingers fused together
Micrcsephaly (specific)
small head
small calveria-normal size fact
Macrocephaly is due to
excess bone thickness
Cleidocranial Dsyplasia
no clavicles (aplasia)
decreased size of clavicles (hypoplasia)
Sprengel Anomaly
scapula at C4-T2 (elevation)
shoulder affected
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
Marfan Syndrome
Defect in FIBRILLIN production
spider-like elongated digits
Lysosomal Storage disorder
-chronic progressive multisystem deterioration with distortions of face and skull
Osteogenesis Imperfecta
Type I Collagen defect
Brittle Bones
overproduction of GROWTH HORMONE
before plate closure- gigantisism
after plat closure- Acromegaly (enlargement of soft tissues and forehead)
pituitary dwarf (cretinism)
mental retardation and skeletal and growht anomolies
Poland Syndrome
absense of muscle....most common-Pectoralis Major
Prune Belly Syndrome
abdominal muscles absent
bladder defects
Congenital Torticollis (muscular Wryneck)
shortening of Sternocleidomastoid
head tilted to side
birth trauma
Muscular Dystrophy
progressive deterioration of skeletal muscle
WITHOUT CNS or PNS Involvement
Type of Muscular Dystrophy
X linked