Arthrogryposis Multiplex Congenita - Springer .Arthrogryposis Multiplex Congenita Harold Chen

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  • Arthrogryposis Multiplex Congenita

    Harold Chen

    ContentsSynonyms and Related Disorders . . . . . . . . . . . . . . . . . . 1

    Genetics/Basic Defects . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1

    Clinical Features . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3

    Diagnostic Investigations . . . . . . . . . . . . . . . . . . . . . . . . . . . . 10

    Genetic Counseling . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 12

    References . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 15

    Arthrogryposis multiplex congenita comprisesnonprogressive conditions characterized by mul-tiple joint contractures throughout the body atbirth. The term encompasses a very heteroge-neous group of disorders having the commonfeature of multiple congenital joint contractures.The overall prevalence of arthrogryposis isapproximately 1 in 3,000 live births (Hall 1985a,b; Fahy and Hall 1990).

    Synonyms and Related Disorders

    Amyoplasia; Distal arthrogryposis (distotarlardysmorphism, Freeman-Sheldon syndrome,Sheldon-Hall syndrome, Gordon syndrome,Hecht syndrome, Beals syndrome)

    Genetics/Basic Defects

    1. Major causes1. Arthrogryposis as a physical sign observed

    in many specific clinical conditions:1. Single-gene defects2. Chromosomal abnormalities3. Known or unknown syndromes or

    conditions4. Environmental effects: mutagenic

    agents, mitotic abnormalities, toxicchemicals or drugs, hyperthermia, neu-romuscular blocking agents, and

    H. Chen (*)Shriners Hospitals for Children, Shreveport, LA, USA

    Perinatal and Clinical Genetics, Department of Pediatrics,LSU Health Sciences Center, Shreveport, LA, USAe-mail: hchen@lsuhsc.edu

    # Springer Science+Business Media New York 2015H. Chen (ed.), Atlas of Genetic Diagnosis and Counseling,DOI 10.1007/978-1-4614-6430-3_16-2

    1

    AmyoplasiaDistal arthrogryposismailto:hchen@lsuhsc.edu
  • mechanical immobilization (Swinyardand Bleck 1985)

    2. Fetal akinesia due to fetal abnormalities:1. Neurogenic abnormalities: the most

    common cause of arthrogryposis1. Meningomyelocele2. Anencephaly3. Hydranencephaly4. Holoprosencephaly5. Spinal muscular atrophy6. Cerebro-oculo-facio-skeletal

    syndrome7. Marden-Walker syndrome

    2. Muscular abnormalities: relatively rarecauses of arthrogryposis1. Congenital muscular dystrophies2. Congenital myopathies3. Intrauterine myositis4. Mitochondrial disorders

    3. Connective tissue abnormalities in ten-don, bone, joint, or joint liningrestricting fetal movements, resulting incongenital contractures. Examplesinclude:1. Synostosis2. Lack of joint development3. Aberrant fixation of joints (as in dia-

    strophic dysplasia and metatropicdwarfism)

    4. Aberrant laxity of joints with disloca-tions (as in Larsen syndrome)

    5. Aberrant soft tissue fixations (as inpopliteal pterygium syndrome)

    6. Failure of normally developed tendonto attach to the appropriate placearound the joint or bone in someforms of distal arthrogryposis,resulting in abnormal lack of move-ment of the joints with secondarycontractures at birth

    4. Mechanical limitations to movement.Limited space for fetal movement insidethe uterus may contribute to develop-ment of contractures. Examples include:1. Multiple births

    2. Uterine structural abnormalities suchas bicornuate uterus

    3. Umbilical cord wrapping4. Oligohydramnios in renal agenesis5. Early persistent leakage of amniotic

    fluid5. Intrauterine vascular compromise

    resulting in loss of nerve and musclefunction with development of fetalakinesia and secondary joint contrac-tures. Examples include:1. Severe maternal bleeding during

    pregnancy2. Failed attempts at termination of

    pregnancy (Hall 1996)3. Fetal akinesia due to maternal disorders,

    examples include:1. Infections

    1. Rubella2. Poliomyelitis

    2. Drugs/chemicals1. Methocarbamol2. Alcohol3. Carbon monoxide poisoning

    3. Trauma4. Vitamin deficiency5. Hyperthermia (e.g., prolonged sauna)6. Radiation7. Other maternal illnesses

    1. Maternal autoantibodies2. Diabetes mellitus3. Myotonic dystrophy4. Maternal multiple sclerosis

    2. Pathophysiology1. Joint development

    1. Almost always normal during earlyembryogenesis

    2. Fetal motion essential for normal devel-opment of joints and their contiguousstructures

    2. Lack of fetal movement (Hall 1989)1. Causing extra connective tissue to

    develop around the joint2. Resulting in fixation of the joint

    2 H. Chen

  • 3. Limiting movement that further aggra-vates the joint contracture

    4. Contractures secondary to fetal akinesia:more severe in patients who are diag-nosed early in pregnancy and who expe-rience akinesia for longer periods of timeduring gestation

    Clinical Features

    1. Family history (Hall 1997, 2014):1. Presence of congenital contractures in the

    family1. Affected siblings2. Other affected family members

    2. Marked intrafamilial variability1. Mildly affected parent2. A parent with contractures early in

    infancy3. Consanguinity

    1. Increasing the chance that the parentswill both carry the same disease gene

    2. Observed more frequently in familieswith rare recessive diseases than inthose with common recessive diseases

    4. Increased parental age1. Some chromosomal abnormalities:

    increasing dramatically with advancedmaternal age

    2. Single-gene dominant mutations:increasing with advanced paternal age

    5. History of previous miscarriages orstillbirths

    6. Multiple consecutively affected child:consider maternal antibodies to fetalneurotransmitter

    2. Pregnancy history (Hall 2014):1. Diminished fetal movement2. Infants born to mothers affected with the

    following disorders:1. Myotonic dystrophy: A child who

    inherits the gene and is severelyaffected with resistant contractures.

    2. Myasthenia gravis and multiple sclero-sis: Children may be born with congen-ital contractures.

    3. Diabetes.3. Maternal infections leading to CNS or

    peripheral nerve destruction with second-ary congenital contractures:1. Rubella2. Rubeola3. Coxsackievirus4. Enterovirus5. Akabane

    4. Maternal fever or hyperthermia causingcontractures due to abnormal nerve growthor migration

    5. Exposure to teratogens leading todecreased fetal movement1. Additive drugs2. Alcohol3. Curare4. Methocarbamol5. Misoprostol6. Phenytoin7. Radiation8. Robaxin

    6. Amniotic fluid volume1. Oligohydramnios, chronic leakage of

    amniotic fluid: causes fetal constraintand secondary deformationalcontractures

    2. Polyhydramnios, hydrops: indicatingfetal compromise

    7. Uterine abnormalities1. Bicornuate uterus with a septum2. Uterine fibroid

    8. Other maternal complications1. Toxemia2. Severe hypotension at critical time3. Severe hypoxia (e.g., carbon monoxide

    poisoning) during pregnancy4. Abnormal fetal lies5. Threatened abortion6. Attempted termination7. Trauma such as trauma to the abdomen8. Early amniocentesis

    3. Delivery history (Hall 2014)1. Breech or transverse fetal position.

    1. Relatively common2. Usually normal length of gestation3. Induction of labor often prolonged

    Arthrogryposis Multiplex Congenita 3

  • 4. Fracture of a limb during traumaticdelivery in 510 % of cases

    2. Abnormal placenta, membranes, or cordinsertion in case of amniotic bands or vas-cular compromise. The umbilical cordmay be shortened or wrapped around alimb, leading to compression.

    3. Prematurity.4. Multiple births or twins.

    1. Lack of movement due to uterinecrowding.

    2. The death of one twin may lead to vas-cular compromise in theremaining twin.

    4. Common physical characteristics1. Involved extremities

    1. Fusiform or cylindrical in shape2. Thin subcutaneous tissue3. Absence of skin creases

    2. Deformities1. Usually symmetric2. Severity increasing distally3. Hands and feet typically being the most

    deformed3. Joint rigidity4. Associated joint dislocations, especially

    the hips and, occasionally, the knees5. Muscles

    1. Atrophy2. Absence

    6. Sensation1. Usually intact2. Diminished or absent deep tendon

    reflexes5. Contractures

    1. Distal joints affected more frequently thanproximal joints

    2. Types of contractures1. Flexion versus extension2. Limitation of movement (fixed

    vs. passive vs. active)3. Complete fusion vs. ankylosis and soft

    tissue contracture3. Intrinsically derived contractures

    1. Frequently associated withpolyhydramnios

    2. Symmetric contractures3. Accompanied by taut skin

    4. Pterygia across joints5. Lack of flexion creases6. Recurrence risk and prognosis depen-

    dent on etiology4. Extrinsically derived contractures

    1. Associated with positional limb anom-alies, large ears, loose skin, and normalor exaggerated flexion creases

    2. Excellent prognosis3. A low recurrence risk

    6. Deformities (Hall 2014)1. Limb deformities

    1. Pterygium (webbing)2. Shortening3. Cord wrapping4. Amniotic bands5. Compression (e.g., due to cord

    wrapping)6. Absent patella7. Dislocated radial heads8. Dimples

    2. Face deformities1. Asymmetry2. Flat nasal bridge3. Hemangioma4. Jaw deformities including

    micrognathia and trismus3. Other deformities

    1. Scoliosis/kyphosis (fixed or flexible)2. Genital deformities

    1. Cryptorchidism2. Microphallus3. Lack of labia

    3. Hernias1. Inguinal2. Umbilical

    4. Other features of the fetal akinesiasequence1. Intrauterine growth retardation2. Pulmonary hypoplasia3. Craniofacial anomalies

    1. Hypertelorism2. Cleft palate3. Depressed nasal tip4. High nasal bridge

    4. Functional short gut with feedingproblems

    5. Short umbilical cord

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