Medical Care
See the list below:
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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.
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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.
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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.
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Obstructive sleep apnea may be treated by adenotonsillectomy, weight reduction, continuous airway pressure by a nasal mask, and tracheostomy in extreme cases.
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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.
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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:
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Thoracolumbar kyphosis can be controlled with a Milwaukee brace fitted with kyphosis pads to prevent progression to thoracic kyphosis.
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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.
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Progressive scoliosis requires spinal fusion.
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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.
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Bone marrow transplantation may benefit patients with skeletal dysplasia associated with congenital immune deficiencies, mucopolysaccharidosis, lipidosis, osteopetrosis, and Gaucher disease.
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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
See the list below:
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Clinical geneticist
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Orthopedist
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Radiologist
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Pediatric surgeon
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Ophthalmologist
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Otolaryngologist
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Neurologist
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Physical and occupational therapists
Diet
See the list below:
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No special diet is required.
Activity
See the list below:
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For nonlethal skeletal dysplasias, physical activity may be limited because of existing orthopedic problems.
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Infant with rhizomelic form of chondrodysplasia punctata (left). Note rhizomelic shortening of limbs, disproportionately short stature, enlarged joints, and contractures. Radiographs depict epiphyseal stipplings on the proximal humerus, both ends of the femora, and lower spine.
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Brother and sister with mesomelic dysplasia (homozygous dyschondrosteosis gene) and a woman with Leri-Weill syndrome. Note disproportionately short stature with mesomelic shortening and deformities of forearms and legs (in mesomelic dysplasia) and short forearms with Madelung-type deformity (in Leri-Weill syndrome).
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Infant with Beemer-type (left) and an infant with Majewski-type (right) short-rib syndrome (SRS). Note severe micrognathia/retrognathia with cleft palate, apparently low-set and malformed ears, small and narrow chest, protuberant abdomen with omphalocele, and short and slightly curved limbs with bilateral postaxial polydactyly (Beemer-type SRS), a large head, short nose, flat nasal bridge, central cleft of upper and lower lips, short neck, short chest, protuberant abdomen, abdomen, ambiguous genitalia, short limbs, and preaxial and postaxial polydactyly (Majewski-type SRS).
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Infant and 2 children with achondroplasia. Note relatively normal-sized trunk, a large head, rhizomelic shortening of the limbs, lumbar lordosis, and trident hands. Radiographs demonstrate abnormal pelvis with small square iliac wings, horizontal acetabular roofs, and narrowing of the greater sciatic notch, an oval translucent area at the proximal ends of the femora, caudal narrowing of the interpedicular distances in the lumbar region, short pedicles, and lumbar lordosis.
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Infant with thanatophoric dysplasia. Note short-limbed dysplasia, large head, short neck, narrow thorax, short and small fingers, and bowed extremities. Radiographs demonstrate thin flattened vertebrae, short ribs, small sacrosciatic notch, extremely short long tubular bones, and markedly short and curved femora (telephone receiver–like appearance).
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Infant with atelosteogenesis. Note short-limbed dysplasia, relative macrocephaly, and short neck. Radiographs demonstrate boomeranglike triangular or oval form of the long bones (humeri), absent radii, markedly delayed ossification of phalanges, short femora, and absent fibulae.
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Child with Hurler syndrome (mucopolysaccharidosis type IH). Note dysplasia, scaphocephalic macrocephaly, coarse facial features, depressed nasal bridge, broad nasal tip, thick lips, short neck, protuberant abdomen, inguinal hernia, joint contractures, and claw hands. Radiographs demonstrate hook-shaped deformity (anterior wedging) of the L1 and L2 vertebrae; abnormally short, wide, and deformed tubular bones (bullet-shaped) of the hands; and narrow base of the second-to-fifth metacarpals. The distal articular surfaces of the ulna and radius are slanted toward each other.
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Two infants with perinatal lethal form of osteogenesis imperfecta. Note short-limbed skeletal dysplasia, deformed extremities, and relatively large head. Radiographs show short, thick, ribbonlike long bones with multiple fractures and callus formation at all sites (ribs, long bones).
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Infant with Larsen syndrome. Note the flat face with depressed nasal bridge, prominent forehead, hypertelorism, cleft palate, talipes equinovarus, and dislocations of elbows, hips, and knees. Radiograph demonstrates dislocation at the knee.
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Child with Robinow syndrome. Note moderate short stature, flat facial profile (fetal face–like appearance), short forearms, and small hands.
