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Chapter 68. Congenital Malformations of The Skeletal System - Review of Medical Embryology Book - LifeMap Discovery
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I. Vertebral column
A. SPINA BIFIDA OCCULTA results from failure of fusion of the halves of
the vertebral arch, most often in the lumber and sacral regions
1. It is a common defect but usually of no significance
2. The skin over the bifid spine is usually intact, and there may be
no visible signs of the defect except for a "dimple" or tuft of
hair
3. Severe types do exist and are described under Nervous system
development
B. KLIPPEL-FElL SYNDROME (brevicollis): very rare; extreme shortening of
the neck due to a reduced number of cervical vertebrae. The rest of
the cervical vertebrae are usually abnormal in shape and may be fused.
Associated with other abnormalities
C. ASYMMETRICALLY FUSED VERTEBRAE or parts of vertebrae missing;
an increase or decrease in vertebral number is not uncommon due to
the complicated process of formation and rearrangement of the
segmental sclerotomes in development
II. Ribs: defects are mostly secondary to malformations of the vertebral column
A. IF PART OR ALL OF A VERTEBRA is missing, the corresponding ribs are
generally gone
B. IN SEVERE CONGENITAL SCOLIOSIS, the ribs on the concave side of
the chest are often fused or branched
C. ACCESSORY RIBS: usually the cervical rib (lumbar ribs are less
common)
1. Attached to the seventh cervical vertebra; may be unilateral or
bilateral
2. Pressure effects on the brachial plexus or subclavian vessels
may produce symptoms
3. From retention and development of costal processes of cervical
or lumbar vertebrae
D. FUSED RIBS: this may occur posteriorly when 2 or more ribs arise from
a single vertebra
1. Often associated with a hemivertebra which may produce
scoliosis
III. Sternum
A. CLEFT STERNUM
1. Minor clefts or notches are common and are seen as isolated
anomalies
2. Major clefts are usually associated with severe malformations of
the chest
3. Large clefts are rare ( heart); associated with herniation of
thoracic viscera
IV. The clavicles
A. CLEIDODYSOSTOSIS: absence of all or part of the clavicle
1. Usually bilateral and the shoulders are drawn forward to meet
under the chin
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2. Often associated with skull defects (cleidocranial dysostosis)
V. Skull malformations range from major defects incompatible with life to those
that are minor and relatively unimportant. The abnormalities are manifold, and
either all or part of the skull may be involved. They are frequently associated
with brain defects
A. CRANIOSCHISIS OR ACRANIA: the cranial vault is almost absent and a
large spinal defect is often present. Also associated with anencephaly
1. Due to a failure of the cranial end of the neural tube to close
during week 4, thus the cranial vault does not form
B. CRANIOSYNOSTOSIS OR CRANIOSTENOSIS: due to premature
closure of skull sutures
1. More common in male than female; associated with other
skeletal abnormalities
2. Type of deformed skull depends on which sutures close
prematurely
a. If sagittal suture: a long, narrow, wedge-shaped skull
(scaphocephaly)
b. If the coronal suture: a high, towerlike skull (oxycephaly
or acrocephaly)
c. If coronal or lambdoid suture closes on one side:
twisted and asymmetric skull (plagiocephaly)
C. MICROCEPHALY: cranium is normal size or slightly small, but there is no
abnormal closure of the sutures. It is primarily an abnormality of the
CNS in which the brain and skull both fail to grow
Related Pages
Related Organs
Bone
Cartilage
Related Cells
Bone > Spinous Process Of Vertebrae > Prechondrocytic Mesenchymal
Cells
Bone > Dorsal Neural Arch > Prechondrocytic Mesenchymal Cells
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