eMedicine Specialties > Pediatrics: Genetics and Metabolic Disease > Genetics

Skeletal Dysplasia: Treatment & Medication

Author: Harold Chen, MD, MS, FAAP, FACMG, Professor, Departments of Pediatrics, Obstetrics and Gynecology, and Pathology, Director of Genetic Laboratory Services, Louisiana State University Medical Center
Contributor Information and Disclosures

Updated: Sep 14, 2009

Treatment

Medical Care

  • Prenatal detection of skeletal dysplasias may influence the obstetric and perinatal treatment of affected infants. For example, a fetus with achondroplasia should undergo cesarean delivery to minimize the risk of possible CNS complications from vaginal delivery because of the cephalopelvic disproportion caused by a large fetal head and instability of the C1-C2 level of the fetal spine.
  • Treatment is supportive. Medical care for individuals with skeletal dysplasia should be directed at preventing neurologic and orthopedic complications due to spinal cord compression, joint instability, and long bone deformity.
  • Administer neonatal resuscitation and ventilatory support. Most infants with lethal skeletal dysplasias are stillborn or die within hours of birth. Given respiratory support, some infants with severe respiratory distress (eg, asphyxiating thoracic dysplasia) may survive.
  • Obstructive sleep apnea may be treated by adenotonsillectomy, weight reduction, continuous airway pressure by a nasal mask, and tracheostomy in extreme cases.
  • Monitoring height, weight, and head circumference of a child with skeletal dysplasia is important. Specific growth charts are available for specific conditions such as achondroplasia. Care should be taken to avoid obesity.
  • Recombinant human growth hormone treatment has been tried in some patients with skeletal dysplasia. Growth hormone is not a logical treatment for the short stature associated with skeletal dysplasia because the defect is caused by abnormal bone growth in response to the stimulus growth hormone secreted at normal levels. Short-term treatment in patients with achondroplasia and hypochondroplasia has demonstrated an increase in growth velocity, which has been sustained for as many as 4-6 years. More trials are needed to confirm any long-term beneficial effects.

Surgical Care

Surgical intervention depends on the signs and symptoms of skeletal dysplasia as follows:

  • Thoracolumbar kyphosis can be controlled with a Milwaukee brace fitted with kyphosis pads to prevent progression to thoracic kyphosis.
  • Progressive kyphosis, which may lead to spinal cord compression and spastic paraparesis, is best treated by anterior and posterior fusion. Lumbar lordosis with spinal stenosis responds to extensive lumbar laminectomy. Surgical decompression is required to relieve edema of the cervicomedullary cord secondary to bony compression.
  • Progressive scoliosis requires spinal fusion.
  • Ilizarov procedure, a bone-lengthening procedure, is an osteogenetic distractive osteotomy performed to mechanically induce diaphyseal bone growth. The procedure can lengthen limbs; rotate, angulate, and straighten bowed or deformed long bones; and offer reparative hope in some specific situations. Although recent experience has been more favorable (lower incidence of pain, infections, and neurologic/vascular compromise), postponement of such surgical intervention is advocated until the young person is able to make an informed decision.
  • Bone marrow transplantation may benefit patients with skeletal dysplasia associated with congenital immune deficiencies, mucopolysaccharidosis, lipidosis, osteopetrosis, and Gaucher disease.
  • Cesarean delivery must be performed in mothers with certain skeletal dysplasias (eg, achondroplasia) because of a small pelvis (cephalopelvic disproportion secondary to marked pelvic contracture). In achondroplasia, general anesthesia should be considered because the mother can be expected to have spinal stenosis, with the consequent risk associated with spinal or epidural anesthesia.

Consultations

  • Clinical geneticist
  • Orthopedist
  • Radiologist
  • Pediatric surgeon
  • Ophthalmologist
  • Otolaryngologist
  • Neurologist
  • Physical and occupational therapists

Diet

  • No special diet is required.

Activity

  • For nonlethal skeletal dysplasias, physical activity may be limited because of existing orthopedic problems.

More on Skeletal Dysplasia

Overview: Skeletal Dysplasia
Differential Diagnoses & Workup: Skeletal Dysplasia
Treatment & Medication: Skeletal Dysplasia
Follow-up: Skeletal Dysplasia
Multimedia: Skeletal Dysplasia
References
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Further Reading

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Keywords

skeletal dysplasia, disproportional short stature, short stature, dwarfism, osteochondrodysplasias, thanatophoric dysplasia, achondroplasia, osteogenesis imperfecta, achondrogenesis, chondrodysplasia punctata, homozygous achondroplasia, chondrodysplasia punctata, camptomelic dysplasia, congenital lethal hypophosphatasia, perinatal lethal type of osteogenesis imperfecta, short-rib polydactyly syndromes, hypochondroplasia, rhizomelic type of chondrodysplasia punctata, Jansen-type metaphyseal dysplasia, spondyloepiphyseal dysplasia congenita, atelosteogenesis, diastrophic dysplasia, congenital short femur, Langer-type mesomelic dysplasia, Nievergelt-type mesomelic dysplasia, Robinow syndrome, Reinhardt syndrome, acrodysostosis, peripheral dysostosis, Kniest dysplasia, fibrochondrogenesis, Roberts syndrome, acromesomelic dysplasia, micromelia, Morquio syndrome, Kniest syndrome, metatrophic dysplasia, spondyloepimetaphyseal dysplasia

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Contributor Information and Disclosures

Author

Harold Chen, MD, MS, FAAP, FACMG, Professor, Departments of Pediatrics, Obstetrics and Gynecology, and Pathology, Director of Genetic Laboratory Services, Louisiana State University Medical Center
Harold Chen, MD, MS, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics, American Medical Association, American Society of Human Genetics, and Teratology Society
Disclosure: Nothing to disclose.

Medical Editor

James Bowman, MD, Senior Scholar of Maclean Center for Clinical Medical Ethics, Professor Emeritus, Department of Pathology, University of Chicago
James Bowman, MD is a member of the following medical societies: Alpha Omega Alpha, American Society for Clinical Pathology, American Society of Human Genetics, Central Society for Clinical Research, and College of American Pathologists
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from financial planner; Avanir Pharma Stock Investment from financial planner ; WebMD Salary and stock Employment and investment from financial planner

Managing Editor

David Flannery, MD, FAAP, FACMG, Vice Chair of Education, Chief, Section of Medical Genetics, Professor, Department of Pediatrics, Medical College of Georgia
David Flannery, MD, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics and American College of Medical Genetics
Disclosure: Nothing to disclose.

CME Editor

Paul D Petry, DO, FACOP, FAAP, Consulting Staff, Freeman Pediatric Care, Freeman Health System
Paul D Petry, DO, FACOP, FAAP is a member of the following medical societies: American Academy of Osteopathy, American Academy of Pediatrics, American College of Osteopathic Pediatricians, and American Osteopathic Association
Disclosure: Nothing to disclose.

Chief Editor

Bruce Buehler, MD, Professor of Genetics, Munroe Meyer Institute, Professor, Department of Pediatrics, Pathology and Microbiology, University of Nebraska Medical Center
Bruce Buehler, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics, American Association on Mental Retardation, American College of Medical Genetics, American College of Physician Executives, American Medical Association, and Nebraska Medical Association
Disclosure: Nothing to disclose.

 
 
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