Oleh :
Sofyan Cholid
Pembimbing:
DR.Dr. Tjipta Bahtera, SpA(K)
1
PENDAHULUAN
Description
normal development.
Epidemiology
• If they are X-linked this will produce a male preponderance but otherwise
Prevention
contractures have a low recurrence risk, but the recurrence risk for intrinsically
2
Here is presented a case of England. The purpose of this case is discussed
patofisiologis aspects, diagnosis and management of a male child three years four
multiple joint disorder caused this child born with difficulties in fine and gross
motor movement. Various complications experienced in the early days of the life
and early intervention is not optimal given the impact on child growth and
development for approximately three years prior to the Polyclinic at Dr. Kariadi
3
CASE
The case was a boy T 3 years 2 months living in Semarang, born November 22,
2003. He is the second of two brothers. Patients came to clinic at Dokter Kariadi
Hospital referral general practice with a complaint can not walk, from anamnesis
data obtained from birth the child suffered physical abnormality in the form of
both feet facing inwards, arms look limp. Have taken medication to alternative
and bone specialists. After 40 days of age the child placed a cast on both legs,
('ve ± 30 months before coming to poliklink RSDK, does not always come
according to the schedule stipulated), are still not able to walk by himself, still
"shuffle". The Child can hear, when called in turn, heard a motorcycle when his
father came home from work to understand. Second hand therapy has not been
done, now there is still difficulty in using hands to hold something. 5 months ago
Growth History:
4
Sitting with his head erect without grip 10 month
Crawl 12 month
Switching places with "shuffle" 18 month
Stand holding 2 years
Walking alone Not yet
- Language : Smile 3 month
5 months
Laugh 1 year
Calling the first word (mama, father) 2 year
Simple sentences (2-3 words)
Sosial personality: Drinking from a glass / cup independent. Not yet
Eating independently Not yet
-impression : Growth and development are not age-appropriate
Disease and Family History Long ago, can not find a history of seizures (-),
trauma (-), pulmonary TB undergoing treatment since the age of 14 months until
Perinatal History, Child born to mothers 24 years G2P1A0 nine months pregnant,
the ANC (+) in the midwife, ANB (-), pregnancy, disease history (-), trauma (-),
big pregnancy pregnancy are smaller than the previous child. KK (-) during the
operation, the number and condition of the amniotic fluid did not know. Male
5
burst into tears, BBL 2700 gr 48.5 cm TL. Congenital anomaly (+) both feet
Social and Economic History, father of a primary school teacher with income
class IIID ± Rp. 1.700.000/month support a wife and two dependent children,
living in their own permanent houses (LT ± 100m2). Mother sufferer does not
6
Family Tree: The patient is a child to the second of two brothers.
Physical examination at the moment she first came to the RSDK clinic, obtained
Men 3 years 2 months, weight 9700 grams, body length 84.5 cm, komposmentis
7
min pulse within normal limits, frequency of breathing 20 x / min, temperature
nose, palate high position, makroglosia, low-set ear. On examination of the chest
8
Developments with a screening examination
Denver II: Personal socially appropriate age 3 years, fine motor according to the
age of three years, the language according to age two years nine months, gross
motor according to the age of one year. Impression: delays on two sectors
9
Impressions: Eksorotasi on left femur
10
X-Photo Manus 28/02/2007
–
–
–
–
- A good bone structure, no visible lesions lytic, sclerotic and bone
destruction
- There seems lusensi submetaphyseal
- There was no metaphyseal and epiphyseal sclerosis
- There was no periosteal reaction
- The cortex does not attenuate
Impressions: Within normal limits
11
ASSESMENT :
1. Base of diagnosis : Suspect Distal Arthrogryposis Multiplex
Congenita
(Q74.3)
2. Comorbid Diagnosis:
Agenesis Metacarpal Sinistra et Dextra (Q74.0)
Developmental Delayed (R62.0)
3. Growth Diagnosis : Tunjukkan huruf latin
Delays in language and gross motor sector
4. Diagnosis immunization : Complete basic age-appropriate \
PROGRAM-PROGRAM
1. SPEECH THERAPY
- Exercise pronunciation
- Stimulate the child to speak clearly is to train kata-kata/kalimat
2. OCCUPATIONAL THERAPY
- Gross motor movement exercises with walking exercises
- Practice fine motor movements with the activity (holding
exercises, writing, coloring)
- Making & manufacture of special shoes handsplint
3. INDEPENDENT CARE
- Exercise daily activities: bathing, dressing, use a comb, holding a
glass and spoon, so that the child is more erect
4. PSYCOLOGY
- Support for both mental parents & kids to be able to understand &
accept the physical limitations experienced by
12
IQ tests to Examination of psychological, determine the
appropriate child's education
5. SOCIAL MEDICAL
- Description of the disorder so that patients who have parents that
their children could receive
6. NUTRITION
- Improve the quality and quantity of dietary intake
13
MONITORING OF A BOY WITH ATHROGRYPOSIS MULTIPLES CONGENITAL
RSDK
Lahir
76Tidur
10
11
14
12
Duduk
233X
Tengkurap
1bulan
Koreksi
th
Operasi
tahun
kata
foto:
bulan
92Kalimat
22/11/2003
miring
bulan
(mama,
agenesis
CTEV
Fisioterapi
dg Berpindah
RS Ketileng,
tempat
pemasangan
dengan cara
sepatu
‘mengesot’
koreksi
Riwayat
sederhana
metacarpal
papa,
CTEV mba)
persalinan
(2
Gips penyesuaiansin-
suku sectio
Keterbatasan kata)
dex
8x fisik (CTEV,
drophand)
14
DISCUSSION
among others miopati hipotoni and diminution of muscle mass that occur from
relatively normal level of intelligence.5 The incidence of one in 3000 live births.
associated with abnormal body shape, but generally within normal limits. 50% of
patients with involvement of vital organs and central nervous system disorders
will die in the first year of life, Scoliosis may lead to impacts on the his respiration
system.4
since the moment of conception until the end adolescence. This is what
distinguishes children from adults. Child growth and development take place
regularly, interconnected and sustainable. There are so many factors that can
affect child growth and development. TSB factors are usually divided into two
internal factors such as genetics, race, age, gender and external factors such as
15
Pathophysiology
1841, since when it is still debated phatogenesisnya mechanism, for the reasons
stated is still not satisfactory because the fetus is experiencing some movement
cases not.7 There are two main types of AMC, which is the type of neuropathic
groin and thorough abnormalities on chest bones and spine, while the type of
generally within normal limits. The movement is an important factor for the
normal formation of the joint and its supporting structure, the presence of fetal
movement barriers may cause excessive formation of connective tissue that forms
around the foundation. This resulted in a fixed joints which followed the
movement of obstacles and finally make joint contractures.4 The main cause of
16
(including infections, drugs, trauma, abnormalities shape of the uterus,
AMC was able to accompany some genetically inherited diseases, eg, spinal
that often arise, but the disorder can appear symmetrical flexion at all joints in the
hypotonia, unless the factors that relate directly to the fetus like oligohydramnion
is worthy of consideration.7
17
b. Oculocerebrorenal syndrome (Lowe)
Neonatal spinal cord injury
1. Breech presentation
2. Cephalic presentation
Motor neuron disorders
1. Spinal muscular atrophies
a. Acute infantile
b. Chronic infantile
c. Infantile neuronal degeneration
d. Neurogenic arthrogryposis
e. Incontinentia pigmenti
1. Congenital hypomyelinating neuropathy
Disorders of neuromuscular transmission
1. Infantile botulism
2. Myasthenia gravis
a. Transitory neonatal myasthenia
b. Congenital myasthenia
c. Familial infantile myasthenia
Fiber type disproportion myopathies
1. Congenital fiber type disproportion myopathy
2. Myotubular (centronuclear) myopathy
a. Acute
b. Chronic
1. Nemaline (rod) myopathy
2. Central core disease
Muscular dystrophies
1. Congenital muscular dystrophy
a. Without cerebral involvement
– Mild
– Severe
– Hypotonic-sclerotic
a. With cerebral involvement
– Fukuyama type
– With hypomyelination
– With cerebro-ocular anomalies
a. With autosomal dominant inheritance
1. Myotonic dystrophy
Metabolic myopathies
1. Acid maltase deficiency
2. Cytochrome-c-oxidase deficiency
3. Carnitine deficiency
4. Phosphofructokinase deficiency
18
5. Phosporylase deficiency
Infantile myositis
Source: Fenichel Gerald M, 2007.4
Classification
literature classifies the AMC which is caused by neurological factors and non-
19
Here is a chart of classification AMC
tissue that exceeds the age of gestation, which may be accompanied by clinical
formation of cartilage tissue can cause the formation of hiperelastic joints which
will dominate the weakest joint area, if accompanied by a disorder that can lead to
cartilage tissue generally is one of the symptoms of: Beal syndrome, Antley-Bixer
20
Beal syndrome clinical characteristic can be detected with the present of
ear-fold (crumpled ear), the fingers are long and slender and short neck,
may manifest in depressed nasal bridge (nasal bridge) and the presence of choanal
cartilage tissue, but in few cases can be accompanied with a cleft palate (cleft
palate), cleft lip (cleft lift), which forms a small tongue, trismus, ptosis In general,
generally the picture of severe joint contractures and muscle growth or amyoplasia
barriers. Typical picture of the body that affect motion including motion in the
barrier, the soles (67%), hip joint (50%), wrist (43%), knee (41%), elbow (30%)
and shoulder (4%). There are two general variations in the AMC. Type 1 (typical
of distal arthrogryposis), in patients found flexion and hip joint dislocations, knee
elbow joint and found the existence of flexion and ulnar deviation at the wrist
21
14-17
with a level of intelligence within normal limits , Distal Arthrogryposis Type 1
disorder with mutations in the gene short arm of chromosome 11, especially
11p15, found the existence of abduction and rotation out of the hip joint, knee
flexion, clubfeet, rotation to the shoulder joint, elbow extension and flexion and
Non-fetal cause
Fetal, non-nervous system causes
Cerebral malformations
Chromosomal disorders
Cerebrohepatorenal syndrome
Motor unit disorders
Congenital cervical spinal atrophy
Congenital fiber type disproportion myopathy
Congenital muscular dystrophy
Familial infantile myasthenia
Infantile neuronal degeneration
Myotonic dystrophy
Neurogenic arthrogryposis
Phosphofructokinase deficiency
Transitory neonatal myasthenia
X-linked distal arthrogryposis
Sumber: Sumber: Fenichel Gerald M, 2007.4
22
Arthrogryposis due to limited physical motion occurs due to the reduced
uterine tumors) or because of the problems that resulted in the formation of skin
tissue resistance in the movement of such joints which can be found in Escobar
syndrome.11
23
In cases, the abmormalities classified as distal AMC above considerations
are not met dysmorphic face with the level of intelligence in the normal range (IQ
of pregnancy data obtained is less than the previous pregnancy because one of
capacity of the uterus during pregnancy due to the small amount of amniotic fluid
Diagnosa
24
AMC diagnosis can be established since the time of prenatal care based on
the discovery of factors that inhibit the movement of fetus in the uterus and the
can be enforced in the first trimester or early second trimester with the detection
of tissue edema subkutaneus, AMC also been reported with increasing "nuchal
weeks gestational age.16 While the post-natal diagnosis is generally obvious after
patients who were observed..11 Symptoms found in patients with AMC is the
limited movement of joints since birth and are not progressive. Movement joint
shoulder joint and is generally experienced in the direction of rotation, elbow joint
extension, wrist and finger flexion. Hip joint dislocation can be experienced and
suffered a mild flexion position, with knee in extension position with your feet in
In this case, parents feel the patients had abnormalities on limb compared
to the previous child was born and disorder since it tends to settle does not get
worse from time to time. The diagnosis is based on encounters several limb joints
that experienced contractures, the resistance movement in the joints that are not
members of the progressive movement and a late lead to the development of gross
motor skills in the sector that have occurred since birth. On physical examination:
25
the joint hands and fingers flexion, rotation left femur and both feet clubfeet
pregnancy are smaller than previous pregnancies who can lead to suspicion of
Pengelolaan
Arthrogryposis management has not met that gives a perfect result, so the
final result is expected as a "goal" of this disorder pengelolaan adalah achieve the
immediately after birth can increase the area of joint movement (range of motion,
after stretching the joints that experienced kelaianan, so it can be indicated for
surgery.4
including casting, fitting splint on the joint problem, train the muscle strength and
26
motion (ROM) which aims to improve mobility. During the preschool period,
disease. Poorly functioning upper limb caused by muscle contractures and limited
strength in children with arthrogryposis will affect the ability to feed themselves,
dress and play. The ultimate goal of therapy at this age is to reduce disability and
broad management of motion (ROM) is adequate at this age will help the ability
to dress, fitting splint yan will continuously maintain the desired position, muscle
customized for groups this age.13 While the school-age children and adolescents,
children with the AMC should be able to take care of yourself and exercise
program so that its ability to develop optimally, while family support is needed, so
should be the focus for children with AMC still may lose the ability if the exercise
sagging movement (stretching) does not proceed in line with increasing age.
In that case, at the age of eight months of the installation done by a doctor
gypsum Orthopaedic Surgery at his feet for the management CTEV, passed
surgery for the correction on both feet. At the age of 14 months, performed
surgery on Achilles tendon physiotherapy followed for two years at the private
hospital. Because children are still not able to walk, then to a hospital for
27
treatment Kariadi. When you first come to relocate the child can only be "shuffle",
difficulty in holding their own drinking bottles and the difficulties raised both
exercises broad movement (ROM) and strength train the entire extremity, fine
beads and train holding stationery done at home. Motivation to always use a shoe
splints on both wrists when the ROM on his wrist has been optimized in order to
keep the flexibility and broad movements in the wrist joints remain intact so that
children can be independent in eating and drinking, dress , and nurture yourself.
Speech Ability
itself. In most books the term used for expressive auditory aspects of speech and
and language delays in children aged 2-5 years ranged from 5% - 8%, while
28
keretelambatan speaking only about 2.3% - 19%.18 Speech delay (delay speaking)
is a series of normal language learning, but with a slower speed than the
disorder most often found in early childhood with a prevalence of around 6%.
also to the families at home in order to always provide stimulation and had spoken
early stimulation, because it may cause expressive traits such as raised eyebrows,
open mouth and eyes like the expression of amazement. Also children will also
social behavior, emotional and motor. Attention and affection is also a necessary
Independence Care
29
General purpose does this intervention in children is so that every child
can meet the basic needs and care for themselves by reducing dependence on both
parents according to the abilities of children his age, early intervention does still
encountered a lack of ability to grasp and the extensive movement of the joints on
both hand, which at the end of the observations of increased capacity and broad
either by glass or bottle, holding the spoon and hold a stock of stationery for the
usually characterized by its behavior when doing activities together with normal
children in general. For example, when they interact face a number of difficulties
Viewed from a psychological aspect, tuna proper child does tend to feel
apathy, shame, inferiority complex, sensitive and sometimes also appear selfish
attitude towards the environment. Circumstances such as these affect the ability in
30
konsulkan into the psychology to determine the child's IQ score associated with
of the disorder of a particular syndrome. Child's IQ score was in the normal range
at 95 points (90-109).
31
PROGNOSIS
many joints are experiencing contractures. In some severe cases death can occur
system which will meningggal at the age of the first year.4,12,20 AMC sufferers can
become mature, active and socialize with the environment in accordance with the
especially in families so that children can receive physical limitations that are
owned and can lead to advantages on the other side.21 With increasing age, the
condition of the four extremities more easily than other people have problems that
Ad Vitam: ad Bonam
Ad Sanam: dubia
32
CHARTS ISSUES
Child ♂ 3 years 2 months, whight 9.7 Kg, height 84.3 cm, headcircumference 48.6 cm
with
Arthrogryposis Multiplex Congenita Distal, Agenesis Metacarpal Sinistra et Dextra
Developmental Delayed
Had undergone:
- CTEV correction with 8times gips andsurgery
33
References
1. Oberoi GS, Kaul H.L., Gill IS, Batra RK. Anaesthesia in arthrogryposis
multiplex congenita: case report. Can. J. Anaesth [serial online] 1987;34(3):23-
27.
Available from: URL:http://www.cja-jca.org/cgi/reprint/34/3/288
Masih ditemukan gangguan tumbuh kembang:
2. Chen H. Arthrogryposis.
-DDSTDalam: Bowman J, di
II, keterlambatan Windle Mary
seluruh L, Youssoufian H,
sektor
terutama
Petry Paul D, Beuhler B, editors. motorik
[online] 2007kasar
Aug 8 [cited 2009 Mar 6];
-ELM sesuai usia 1 tahun 9 bulan
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3. The Merck Manuals Medical Library. Arthrogryposis multiplex congenital.
Program :
[online][2005?][cited 2009 Mar 6]. Available from: -DDST II, ELM scale II
http://www.merck.com/mmpe/sec19/ch288/ch288b.html -Pemantauan anthropometri
-Fisioterapi (ROM)
4. Fenichel Gerald M. Hypotonia, arthrogryposis, and rigidity. In: Fenichel Gerald
-Pengelolaan penyakit
M, editor. Neonatal Neurology. Fourth Edition. Philadelphia:penyerta Churchill
Pemantauan Tumbuh kembang
Livingstone Elsevier.2007:37-69. E-Book, available from:
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Loss of growth (usia 3 th 9 bln) – Stimulasi
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Short Stature (HAZ < - 3SD) – Fisioterapi
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Brown L.M, Robson Promotif:
M.J, Sharrard W.J. The phatophysiology of arthrogryposis
personal sosial, motorik halus, bahasa sesuai umur – Psikologi
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motorik kasar sesuai umur 2 th
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Feb];62-B(3):291-96. – Kasih sayang
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- Morbiditas : Gangguan saluran (ISPA), – Stimulasi/interaksi
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http://www.jbjs.org.uk/cgi/reprint/62-B/3/291 sosial
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– Asih
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7. Sells JM, Jaffe KM, Hall JG. Amyoplasia, the most common Preventif:
type of
– Psikologi
arthrogryposis: the potential for good outcome. Pediatrics [serial online] –1996
Pemantauan
Optimal Growth
[cited 2008 Dec];97:225-31. Availeble from: pertumbuhan
(WHO anthro ) &
http://web.ebscohost.com/ehost/viewarticle? perkembangan
data=dGJyMPPp44rp2%2fdV0%2bnjisfk5Ie45PFIrqm2Sa (Denver II)
– Pemantauan
%2bk63nn5Kx95uXxjL6nrkevpq1Krqa3OK defisit ROM
%2bwrkm4p644v8OkjPDX7Ivf2fKB7eTnfLujs0i1rK9KrqexPurX7H – Imunisasi booster
– Nutrisi
%2b72%2bw
Pendidikan:
%2b4ti7e7bepIzf3btZzJzfhruorki3rrJRs6i3PuTl8IXf6ruI4tzEjeri0n326gAA&hid – Sekolah khusus
=108
34
8. Alfonso I, Papazian O, Paez JC, Groosman John A.I. Arthrogryposis multiplex
congenital. Int Pediatr. [serial online] 2000 [cited 2008 Dec];15(4):197-204.
Available from: http://int-pediatrics.org/PDF/Volume%2015/15-4/alfonso.pdf
9. Blachford Stacey L. Arthrogryposis multiplex congenital. In: Blachford Stacey L
(editor). The Gale Encyclopedia of Genetic Disorders. Vol.1. Farmington Hill:
Gale Group. 2002:104-7.
10. Donohoe M, Bleakney DA. Arthrogryposis Multiplex Congenita. In: Campbell
SK. Physical Therapy for Children. USA: W.B. Saunders Company;1995: 261-
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11. Hall JG. Arthrogryposes (Multiple Congenital Contractures). In: Rimoin DL.
Principles and Practice of Medical Genetics 4th ed. London: Churchill
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12. Katherine S, Gale Thomson. Distal arthrogryposis syndrome. Available from:
http://www.healthline.com/galecontent/distal-arthrogryposis-syndrome-1
13. Madal R, Tuysus B, Aksoy F, Barbaros M, Uluda S, Ocak V. Prenatal diagnosis
of arthrogryposis multiplex congenita with increased nuchtal translucency but
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contractures). [Online]. 2005 November [cited 2008 Mar];
Available from: http://www.merck.com/mmpe/sec19/ch288/ch288b.html
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Recommendation Statement, US Preventive Services Task Force. Pediatrics
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Available from: http://pediatrics.aappublications.org/cgi/reprint/117/2/497
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WB and Crocker AC, editor. Developmental-behavior pediatrics. 3rd ed.
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disabilities. Pediatrics in Review [serial online] 2005 [cited 2008];26(8):274-83.
Available from:
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18. Distal arthrogryposis syndrome. Available from:
35
http://www.healthline.com/galecontent/distal-arthrogryposis-syndrome-1?
print=true
19. Mead Newton G, Lithgow William C, Sweeney Howard J. Arthrogryposis
multiplex congenital. J Bone Joint Surg Am. [serial online] 1958 [cited 2010
Feb];40:1285-1309.
Available from: http://www.ejbjs.org/cgi/reprint/40/6/1285.pdf
36
37
38
39
40
1 Hall JG. Genetic aspects of arthrogryposis. Clin. Orthop Relat Res [serial online] 1985 April [cited 2010 January];
(1940:44-53.
Available from: URL:
2 Hall JG.Arthrogryposis multiplex congenital: etiology, genetics, classification, diagnostic approach, and general
aspects. J Pediatr Orthop B [serial online] 1997 July [cited 2010 January];6(30:159-66.
Available from: URL:
3 Oberoi GS, Kaul H.L., Gill IS, Batra RK. Anaesthesia in arthrogryposis multiplex congenita: case report. Can. J.
Anaesth [serial online] 1987;34(3):23-27.
Available from: URL:http://www.cja-jca.org/cgi/reprint/34/3/288
4 Chen H. Arthrogryposis. Dalam: Bowman J, Windle Mary L, Youssoufian H, Petry Paul D, Buehler B, editors.
[Online]. 2007 Aug 8 [cited 2009 Mar 6];
Available from: URL:http://emedicine.medscape.com/article/941917-overview
5 The Merck Manuals Medical Library. Arthrogryposis multiplex congenital. [online][2005?][cited 2009 Mar 6];
Available from: URL: http://www.merck.com/mmpe/sec19/ch288/ch288b.html
6 Soetjiningsih. Tumbuh kembang anak. Dalam: Ranuh IG, penyunting. Tumbuh kembang anak. EGC, Surabaya 1995.
7 Fenichel Gerald M. Hypotonia, arthrogryposis, and rigidity. In: Fenichel Gerald M, editor. Neonatal Neurology.
Fourth Edition. Philadelphia: Churchill Livingstone Elsevier. 2007. 37-69.
E-Book, available from: http://books.google.co.id/books?
id=pcohnF3AJ6AC&printsec=frontcover#v=onepage&q=&f=false
8 Brown L.M, Robson M.J, Sharrard W.J. The phatophysiology of arthrogryposis multiplex cengenita neurologica. The
Journal of Bone and Joint Surgery [serial online] 1980 August [cited 2009 Feb];62-B(3): 291-96. Available from: URL:
http://www.jbjs.org.uk/cgi/reprint/62-B/3/291
10 Sells JM, Jaffe KM, Hall JG. Amyoplasia, the most common type of arthrogryposis: the potential for good outcome.
Pediatrics [serial online] 1996 [cited 2008 Dec];97:225-31.Availeble from: http://web.ebscohost.com/ehost/viewarticle?
data=dGJyMPPp44rp2%2fdV0%2bnjisfk5Ie45PFIrqm2Sa%2bk63nn5Kx95uXxjL6nrkevpq1Krqa3OK
%2bwrkm4p644v8OkjPDX7Ivf2fKB7eTnfLujs0i1rK9KrqexPurX7H%2b72%2bw
%2b4ti7e7bepIzf3btZzJzfhruorki3rrJRs6i3PuTl8IXf6ruI4tzEjeri0n326gAA&hid=108
11 Alfonso I, Papazian O, Paez JC, Groosman John A.I. Arthrogryposis multiplex congenital. Int Pediatr. [serial online]
2000 [cited 2008 Dec];15(4):197-204.
Available from: http://int-pediatrics.org/PDF/Volume%2015/15-4/alfonso.pdf
12 Blachford Stacey L. Arthrogryposis multiplex congenital. In: Blachford Stacey L (editor). The Gale Encyclopedia of
Genetic Disorders. Vol 1, Farmington Hill: Gale Group. 2002. 104-7.
E-Book, available from:
www.doctors.am/.../The_Gale_Encyclopedia_of_Genetic_Disorders_b6eb28f0903273aae433eced6c28cff3.pdf
13 Donohoe M, Bleakney DA. Arthrogryposis Multiplex Congenita. In: Campbell SK. Physical Therapy for Children,
W.B. Saunders Company, USA, 1995: 261-76.
14 Hall JG. Arthrogryposes (Multiple Congenital Contractures). In: Rimoin DL. Principles and Practice of Medical
Genetics, 4th ed, Churchill Livingstone, London, 2002: 4182-4235.
19 Kania Nia. Stimulasi tumbuh kembang anak untuk mencapai tumbuh kembang optimal. Dalam: Seminar “Stimulasi
Tumbuh Kembang Anak”. Bandung, 11 Maret 2006.
20 Distal arthrogryposis syndrome. Available from: http://www.healthline.com/galecontent/distal-arthrogryposis-
syndrome-1?print=true
21 Mead Newton G, Lithgow William C, Sweeney Howard J. Arthrogryposis multiplex congenital. J Bone Joint Surg
Am [serial online] 1958 [cited 2010 Feb];40:1285-1309.
Available from: www.ejbjs.org/cgi/reprint/40/6/1285.pdf