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Management of disabilities associated with achondroplasia

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      Abstract

      Achondroplasia is a skeletal dysplasia that manifests as short stature. Impairment and complications range over many disciplines including orthopedics, pediatrics, neurology, and otolaryngology. The major impairments of the extremities are short limbs, limited elbow and hip extension, and knee and leg deformities that can cause disabilities in arm function and locomotion. Hydrocephalus, a narrow foramen magnum, spinal deformity, and spinal canal stenosis can cause neurological problems, leading to disabilities in locomotion, communication, and learning. Malfunctions of the otolaryngeal system such as otitis media, upper respiratory obstruction, deafness, speech delay, and malocclusion are interrelated and can also lead to disabilities in communication and learning. Although such disabilities may cause social handicaps, most children receive a normal education. Their social maturity scale is comparable to that of normal children, but their scale of locomotion is not. The reported occupational level of female adult patients is lower than that of their unaffected siblings. When managing patients, orthopedists should consider the overall aspects of achondroplasia, including natural development and complications other than orthopedic factors.

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      References

        • Aldegheri R.
        • Dall’Oca C.
        Limb lengthening in short stature patients.
        J Pediatr Orthop B. 2001; 10: 238-247
        • American Academy of Pediatrics Committee on Genetics
        Health supervision for children with achondroplasia.
        Pediatrics. 1995; 95: 443-451
        • Brinkmann G.
        • Schlitt H.
        • Zorowka P.
        • et al.
        Cognitive skills in achondroplasia.
        Am J Med Genet. 1993; 47: 800-804
        • Erdinçler P.
        • Dashti R.
        • Kaynar M.Y.
        • et al.
        Hydrocephalus and chronically increased intracranial pressure in achondroplasia.
        Childs Nerv Syst. 1997; 13: 345-348
        • Haga N.
        • Takikawa K.
        • Nakamura S.
        • et al.
        Social activities in Japanese patients with achondroplasia: questionnaire about education and occupation, and social maturity scale.
        Sogo Rehabil. 2001; 29 (in Japanese): 1147-1150
        • Hall C.M.
        International nosology and classification of constitutional disorders of bone (2001).
        Am J Med Genet. 2002; 113: 65-77
        • Hecht J.T.
        • Butler I.J.
        Neurologic morbidity associated with achondroplasia.
        J Child Neurol. 1990; 5: 84-97
        • Horton W.A.
        • Rotter J.I.
        • Rimoin D.L.
        • et al.
        Standard growth curves for achondroplasia.
        J Pediatr. 1978; 93: 435-438
        • Hunter A.G.W.
        • Bankier A.
        • Rogers J.G.
        • et al.
        Medical complications of achondroplasia: a multicentre patient review.
        J Med Genet. 1998; 35: 705-712
        • Kahanovitz N.
        • Rimoin D.L.
        • Sillence D.O.
        The clinical spectrum of lumbar spine disease in achondroplasia.
        Spine. 1982; 7: 137-140
        • Kitano M.
        • Yasui N.
        • Kawabata H.
        • et al.
        Tibia/femur ratio in achondroplasia.
        J Jpn Paediatr Orthop Assoc. 1996; 5 (in Japanese): 237-240
        • Kitoh H.
        • Kitakoji T.
        • Kurita K.
        • et al.
        Deformities of the elbow in achondroplasia.
        J Bone Joint Surg Br. 2002; 84: 680-683
        • Kopits S.E.
        Orthopedic complications of dwarfism.
        Clin Orthop. 1976; 114: 153-179
        • Mogayzel P.J.
        • Carroll J.L.
        • Loughlin G.M.
        • et al.
        Sleep-disordered breathing in children with achondroplasia.
        J Pediatr. 1998; 131: 667-671
        • Nakamura S.
        • Haga N.
        • Ikegawa S.
        • et al.
        Gross motor development and growth patterns in achondroplastic children.
        J Jpn Paediatr Orthop Assoc. 1994; 4 (in Japanese): 7-10
        • Pauli R.M.
        • Breed A.
        • Horton V.K.
        • et al.
        Prevention of fixed, angular kyphosis in achondroplasia.
        J Pediatr Orthop. 1997; 17: 726-733
        • Roizen N.
        • Ekwo E.
        • Gosselink C.
        Comparison of education and occupation of adults with achondroplasia with same-sex sibs.
        Am J Med Genet. 1990; 35: 257-260
        • Siebens A.A.
        • Hungerford D.S.
        • Kirby N.A.
        Achondroplasia: effectiveness of an orthosis in reducing deformity of the spine.
        Arch Phys Med Rehabil. 1987; 68: 384-388
        • Stanley G.
        • McLoughlin S.
        • Beals R.K.
        Observations on the cause of bowlegs in achondroplasia.
        J Pediatr Orthop. 2002; 22: 112-116
        • Steinbok P.
        • Hall J.
        • Flodmark O.
        Hydrocephalus in achondrolplasia: the possible role of intracranial venous hypertension.
        J Neurosurg. 1989; 71: 42-48
        • Tachibana K.
        • Suwa S.
        • Nishiyama S.
        • et al.
        Growth of patients with achondroplasia.
        Shounikashinryo (Journal of Pediatric Practice). 1997; 60 (in Japanese): 1363-1369
        • Tanaka H.
        • Kubo T.
        • Yamate T.
        • et al.
        Effect of growth hormone therapy in children with achondroplasia: growth pattern, hypothalamic-pituitary function, and genotype.
        Eur J Endocrinol. 1998; 138: 275-280
        • Tasker R.C.
        • Dundas I.
        • Laverty A.
        • et al.
        Distinct patterns of respiratory difficulty in young children with achondroplasia: a clinical, sleep, and lung function study.
        Arch Dis Child. 1998; 79: 99-108
        • Taybi H.
        • Lachman R.S.
        Radiology of syndromes, metabolic disorders, and skeletal dysplasias.
        4th edn. Mosby, St. Louis1996 (p. 749–755)
        • Todorov A.B.
        • Scott C.I.
        • Warren A.E.
        • et al.
        Developmental screening tests in achondroplastic children.
        Am J Med Genet. 1981; 9: 19-23
        • Tolo V.T.
        Spinal deformity in skeletal dysplasia.
        in: Weinstein S.L. The pediatric spine. Raven, New York1994: 369-393
        • Vilarrubias J.M.
        • Ginebreda I.
        • Jimeno E.
        Lengthening of the lower limbs and correction of lumbar hyperlordosis in achondroplasia.
        Clin Orthop. 1990; 250: 143-149
        • Yasui N.
        • Kawabata H.
        • Kojimoto H.
        • et al.
        Lengthening of the lower limbs in patients with achondroplasia and hypochondroplasia.
        Clin Orthop. 1997; 344: 298-306
        • Yasui N.
        • Kawabata H.
        • Nakase T.
        • et al.
        Humeral lengthening and deformity correction.
        Orthopade. 2000; 29 (in German): 58-62