Further Outpatient Care
Children with skeletal dysplasia should be followed by a multidisciplinary team composed of pediatricians, geneticists, and endocrinologists, as well as surgical subspecialists, including in otolaryngology, orthopedics, and neurosurgery.
Multiple family support organizations exist and are a good resource for families. These organizations include the following (see Patient Education for additional information):
Assistance with research and diagnosis is available from various organizations. The International Skeletal Dysplasia Registry, a research registry, is located at the University of California, Los Angeles.
Complications
See the list below:
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Intrauterine complications: Polyhydramnios and fetal hydrops are typically seen in patients with lethal types of chondrodystrophy, such as achondrogenesis or thanatophoric dysplasia. Occasionally, polyhydramnios may be seen in patients with nonlethal types of chondrodystrophy, such as achondroplasia.
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Respiratory complications: Respiratory distress secondary to small chest, small lungs, small or collapsing trachea, or small upper airway is seen in patients with many types of chondrodystrophy, such as asphyxiating thoracic dystrophy. Infants may snore, may have upper airway obstruction, or may experience hypoxic episodes.
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CNS complications: Hydrocephalus can occur in several types of skeletal dysplasia, notably in achondroplasia, metatropic dysplasia, and other conditions that affect the base of the skull, resulting in small foramen magnum and jugular foramen.
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Skeletal complications: Instability of the C1-C2 cervical spine that leads to spinal cord compression or nerve damage may be observed in patients with several types of chondrodystrophy, such as achondroplasia, SED congenita, and Morquio syndrome. Vertebral abnormalities, hip dysplasia, tight and loose joints, osteoarthritis, bowed legs, and fractures may vary.
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Muscular complications: Truncal hypotonia may lead to kyphoscoliosis in infants with achondroplasia or mucopolysaccharidoses. Thoracolumbar kyphosis may revert to marked lordosis in achondroplasia.
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Otolaryngologic complications: Progressive deafness is associated with repeated middle ear infections in patients with diastrophic dysplasia and achondroplasia. Hearing loss can be conductive or neurosensory in origin.
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Ophthalmologic complications: Myopia may predispose the patient to retinal detachment in Kniest dysplasia and SED congenita.
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Dental complications: Malocclusions, dental crowding, and structural abnormalities of teeth may be present in patients with many types of chondrodystrophy.
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Nutritional complications: Obesity is often a problem in patients with some types of chondrodystrophy, especially achondroplasia.
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Other complications
Anesthesia can be a problem in patients with some chondrodysplasias.
Unstable cervical vertebrae should be excluded.
Malignant hyperthermia may occur during anesthesia in patients with some types of chondrodysplasia, such as osteogenesis imperfecta.
Numerous obstetric and gynecologic problems are common in women with disproportionately short stature. Cesarean delivery of a baby may be required because of a contracted pelvis in the mother.
Prognosis
Although certain skeletal dysplasias are lethal in the newborn or infancy periods, patients with other types of skeletal dysplasia have normal or near-normal life expectancy. For patients with nonlethal skeletal dysplasias, prognosis depends on the degree of skeletal abnormalities and concomitant anomalies.
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Some patients may have difficulty finding a marital partner.
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Men with skeletal dysplasia complain less often of psychiatric symptoms and feel less stigmatized than do women.
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Medical and social aspects of the life course for adults with a skeletal dysplasia include the following: [37]
Overall, strong evidence suggests some barriers to equal opportunity in education and employment, and these, together with increased social isolation, are highly likely to exert a strong influence on financial situation and, therefore, on quality of life. All persons with skeletal dysplasia are physically impaired by virtue of the dysplasia. Only those with severe physical abnormalities are hampered in obtaining education and employment.
A substantial gap is observed in knowledge of the medical and social experiences of adults with skeletal dysplasias.
The relevance of the disability label is an important issue to many people with disabling conditions. It may be necessary to "come out" as disabled in order to qualify for support such as Disability Living Allowance (DLA).
Only by adopting a more stringent methodological approach to future research will it be possible to provide the robust evidence-base needed to inform future health and social service provision, as well as offering material for education and training purposes.
Patient Education
The birth of a child with a skeletal dysplasia is an emotionally difficult experience for parents. The term "dwarf" has especially negative connotations; thus, skeletal dysplasia is the preferred term for discussing these disorders. Up-to-date information and resources pertaining to skeletal dysplasia should be made available to families. The following resources may help parents meet other parents of children with skeletal dysplasia who can offer support and realistic appraisal of the implications:
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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.
