Apnea and sudden unexpected death in infants with achondroplasia

Pauli, Richard M.; Scott, Charles I.; Wassman, E. Robert; Gilbert, Enid F.; Leavitt, Lewis A.; Hoeve, James Ver; Hall, Judith G.; Partington, M. W.; Jones, Kenneth Lyons; Sommer, Annemarie; Feldman, William H.; Langer, Leonard O.; Rimoin, David L.; Hecht, Jacqueline; Lebovitz, Ruth M.

doi:10.1016/s0022-3476(84)81092-6

Cited by 179 publications

(104 citation statements)

References 25 publications

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“…28,29 This seems to result from central apnea arising secondary to compression of arteries at the level of the foramen magnum. 28 In addition, the universally small foramen magnum may result in a high cervical myelopathy. 30,31 However, with appropriate assessment and intervention, both risks can be minimized.…”

Section: The Prenatal Visitmentioning

confidence: 99%

Health Supervision for Children With Achondroplasia

Trotter¹,

Hall²

2005

Pediatrics

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191

137

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ABSTRACT. Achondroplasia is the most common condition associated with disproportionate short stature. Substantial information is available concerning the natural history and anticipatory health supervision needs in children with this dwarfing disorder. Most children with achondroplasia have delayed motor milestones, problems with persistent or recurrent middle-ear dysfunction, and bowing of the lower legs. Less often, infants and children may have serious health consequences related to hydrocephalus, craniocervical junction compression, upper-airway obstruction, or thoracolumbar kyphosis. Anticipatory care should be directed at identifying children who are at high risk and intervening to prevent serious sequelae. This report is designed to help the pediatrician care for children with achondroplasia and their families. Pediatrics 2005;116:771-783; achondroplasia, short stature, children, health supervision.

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Section: The Prenatal Visitmentioning

confidence: 99%

Health Supervision for Children With Achondroplasia

Trotter¹,

Hall²

2005

Pediatrics

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191

137

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“…It would be quite an advancement if we could affect the growth of the cranial base and in turn the growth of the maxilla during development, rather than waiting until the completion of growth. Not only would this lead to the possibility of correcting the facial appearance, but it might also be able to affect the size and shape of the foramen magnum and decrease the number of early deaths associated with achondroplasia (Pauli et al, 1984).…”

Section: Discussionmentioning

confidence: 99%

Aspects of achondroplasia in the skulls of dwarf transgenic mice: A cephalometric study

et al. 2006

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Achondroplasia, the most common short-limbed dwarfism in humans, results from a single nucleotide substitution in the gene for fibroblast growth factor receptor 3 (FGFR3). FGFR3 regulates bone growth in part via the mitogen-activated protein kinase pathway (MAPK). To examine the role of this pathway in chondrocyte differentiation, a transgenic mouse was generated that expresses a constitutively active mutant of MEK1 in chondrocytes and exhibits dwarfing characteristics typical of human achondroplasia, i.e., shortened axial and appendicular skeletons, mid-facial hypoplasia, and dome-shaped cranium. In this study, cephalometrics of the MEK1 mutant skulls were assessed to determine if the MEK1 mice are a good model of achondroplasia. Skull length, arc of the cranial vault, and area, maximum and minimum diameters of the brain case were measured on digitized radiographs of skulls of MEK1 and control mice. Cranial base and nasal bone length and foramen magnum diameter were measured on midsagittal micro-CT sections. Data were normalized by dividing by the cube root of each animal's weight. Transgenic mice exhibited a domed skull, deficient midface, and (relatively) prognathic mandible and had a shorter cranial base and nasal bone than the wild-type. Skull length was significantly less in transgenic mice, but cranial arc was significantly greater. The brain case was larger and more circular and minimum diameter of the brain case was significantly greater in transgenic mice. The foramen magnum was displaced anteriorly but not narrowed. MEK1 mouse cephalometrics confirm these mice as a model for achondroplasia, demonstrating that the MAP kinase signaling pathway is involved in FGF signaling in skeletal development.

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“…40 -42 In early infancy, there is the potential for serious compression of the cervicomedullary spinal cord secondary to a narrow foramen magnum, cervical canal, or both. [43][44][45][46][47][48] Clinically, these infants can have central or obstructive sleep apnea, profound hypotonia, motor delay or excessive sweating, and can awake from sleep with emesis. Magnetic resonance imaging with flow studies in flexion 47 and extension are necessary to document the cerebrospinal fluid obstruction, which can require decompressive surgery.…”

Section: Achondroplasiamentioning

confidence: 99%

The skeletal dysplasias

Krakow¹,

Rimoin

2010

Genetics in Medicine

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203

167

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Abstract:The skeletal dysplasias (osteochondrodysplasias) are a heterogeneous group of more than 350 disorders frequently associated with orthopedic complications and varying degrees of dwarfism or short stature. These disorders are diagnosed based on radiographic, clinical, and molecular criteria. The molecular mechanisms have been elucidated in many of these disorders providing for improved clinical diagnosis and reproductive choices for affected individuals and their families. An increasing variety of medical and surgical treatment options can be offered to affected individuals to try to improve their quality of life and lifespan. Genet Med 2010:12(6):327-341. Generalized disorders of cartilage and bone have been referred to as skeletal dysplasias, whereas those that affect an individual bone or group of bones have been referred to as dysostoses; however, these distinctions are blurring as their basic defects are elucidated. The skeletal dysplasias are associated with abnormalities in the patterning, development, maintenance, and size of the appendicular and axial skeleton and frequently result in disproportionate short stature. Until the early 1960s, most individuals with short stature were considered to have pituitary dwarfism, achondroplasia (short-limb dwarfism), or Morquio disease (short-trunked dwarfism). Presently, there are more than 350 well-characterized skeletal dysplasias that are classified primarily on the basis of clinical, radiographic, and molecular criteria. 1 They result from mutations in various families of genes that encode extracellular matrix proteins, transcription factors, tumor suppressors, signal transducers (ligands, receptors, and channel proteins), enzymes, cellular transporters, chaperones, intracellular binding proteins, RNA processing molecules, cilia and cytoplasmic proteins, and a number of gene products of currently unknown function. The skeletal dysplasiasThe skeletal dysplasias are disorders associated with a generalized abnormality in the skeleton. Although each skeletal dysplasia is relatively rare, collectively the birth incidence of these disorders is almost 1/5000. 2 These disorders range in severity from precocious arthropathy in relatively average stature individuals to severe dwarfism with perinatal mortality. These disorders can be associated with a variety of orthopedic, neurologic, auditory, visual, pulmonary, cardiac, renal, and psychological complications. EmbryologyThe human skeleton (from the greek, skeletos, "dried up") is a complex organ consisting of 206 bones (126 appendicular, 74 axial, and 6 ossicles). The musculoskeletal system also includes tendons, ligaments, and muscles, and, in addition to cartilage and bone, is involved in linear growth, mechanical support, movement, a blood cell and mineral reservoir, and protection of vital organs. These tissues and adipocytes all derive from mesenchymal precursor cells.The patterning and architecture of the skeleton during fetal development determine the number, size, and the shape of the future skeletal elem...

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Apnea and sudden unexpected death in infants with achondroplasia

Cited by 179 publications

References 25 publications

Health Supervision for Children With Achondroplasia

Health Supervision for Children With Achondroplasia

Aspects of achondroplasia in the skulls of dwarf transgenic mice: A cephalometric study

The skeletal dysplasias

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