Arthrogryposis multiplex congenita is characterized by non-progressive, multiple joint contractures present at birth. The major cause of arthrogryposis is fetal akinesia due to fetal abnormalities like neurogenic, muscle, connective tissue abnormalities or maternal disorders Here we report a rare case of arthrogryposis in infant of diabetic mother with multiple congenital anomalies

Kumar, Arvind

Taksande, AM

Vilhekar, KY

English

Cognitive Sciences ePrint Archive

Case Report:
Arthrogryposis: A Rare Manifestation in Infant of Diabetic Mother 
Amar M. Taksande, Associate Professor,
KY Vilhekar, Professor & Head,
Arvind Kumar,Lecturer,
Department of Pediatrics, Mahatma Gandhi Institute of Medical Sciences, Sevagram, Wardha, Maharashtra - 442102
Address For Correspondence:
Dr. Amar M. Taksande,
Department Of Pediatrics,
Mahatma Gandhi Institute of Medical Sciences,
Sevagram, Wardha, Maharashtra – 442102, India.
E-mail: amar_bharti2000@yahoo.co.uk
Citation: Taksande AM, Vilhekar KY, Arvind Kumar. Arthrogryposis: A Rare Manifestation in Infant of Diabetic Mother. Online J 
Health Allied Scs. 2009;8(3):13
URL: http://www.ojhas.org/issue31/2009-3-13.htm
Open Access Archives: http://cogprints.org/view/subjects/OJHAS.html and http://openmed.nic.in/view/subjects/ojhas.html
Submitted: Sep 27, 2009; Accepted: Sep 30, 2009 Published: Oct 15, 2009
Abstract:
Arthrogryposis  multiplex congenita  is  characterized by non-
progressive,  multiple  joint  contractures present at birth.  The 
major cause of arthrogryposis is fetal akinesia due to fetal ab-
normalities like neurogenic, muscle, connective tissue abnor-
malities or maternal disorders Here we report a rare case of 
arthrogryposis in infant of diabetic mother with multiple con-
genital anomalies.
Key Words: Infant of diabetic mother, Arthrogryposis, Lower 
limb
Introduction:
Infants of diabetic mother (IDM) are at an increased risk of 
morbidity  and  mortality  related  to  the  respiratory  distress, 
growth  abnormalities,  hyperviscosity  secondary  to  poly-
cythemia, hypoglycemia and congenital malformations. Cent-
ral nervous system, renal, cardiovascular, and gastrointestinal 
anomalies  are more  frequently found in  the  IDM babies.[1] 
The overall risk is 8-15%, with 30-50% of perinatal fatalities 
related to major congenital malformations. Poor glycemic con-
trol early in pregnancy directly correlates with a higher incid-
ence of congenital malformations.[2] Previous studies suggest 
that  the  birth  defects  in  IDMs  may  be  related  to  reduced 
arachidonic acid and myoinositol levels and elevated sorbitol 
and  trace  metal  levels  in  the  fetus.[2-4]  Here  we  report  a 
neonate who was born to mother affected with type 2 diabetes 
had arthrogyrosis with multiple congenital anomalies..
Case Report:
The full term female newborn was product of a non-consan-
guineous parent delivered by emergency cesarean section due 
to  breech presentation  with  inadequate  pelvis  with  previous 
scar to a 32 year old second gravid mother. The newborn had 
an agar score of 6,9,10 at 1, 5, and 10 minute. The pregnancy 
was complicated by Type 2 diabetes in mother and she was on 
insulin injection. The birth weight of the child was 3123gm, 
head circumference 35 cm and approximate length was 44cm.
On physical  examination,  the infant  had characterstic  facies 
with depressed nasal bridged, widely open mouth and low set 
ear with preauricular tags on left side. Temperature was 37.2º 
C, heart rate 124 beats/minute, and respiratory rate 54/ minute. 
Anterior fontanel was open.  Hypospadiasis with left sided -
Figure  1:  Photograph  shows  infant  of  diabetic  mother 
baby with lower limb arthrogryposis
inguinal hernia was present. Lower limbs were arthrogrypotic 
characterized by the hip was fixed in flexion, knees were ex-
tended, ankles were dorsi-flexed and the foot had eqiunovarus 
deformity (Fig.1). Bilateral congenital hip dislocation with re-
striction of the lower limb movement was present. Shortening 
of the lower limb was present.  No history of similar  illness 
was found in the family. Based on these skeletal abnormalit-
ies,  she was diagnosed as arthrogryposis.  On cardiovascular 
examination, soft systolic murmur was present. Other systemic 
examination was within normal limit. On investigation, com-
plete  blood  cell  count  was:  Hb:  15gm%,  TC:  10,600/cmm 
(LY32%, MO 10%, GR 58%) and platelet count: 5.1 lac/cmm. 
Transthoracic  Colour  Doppler  echocardiographic  revealed 
small  size  patent  ductus  arteriosus  (PDA).  Infantogram 
showed  sacral  agenesis.  Neurosonography  revealed  normal 
brain parenchyma with a normal ventricular system. USG ab-
domen and pelvis  reported normal.  We conservatively man-
aged the neonate and discharged after 7 day without any com-
plication. 
Discussion:
Arthrogryposis multiplex congenita (AMC) is a congenital an-
omaly  characterized by non-progressive,  multiple  joint  con-
1
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Online Journal of Health and Allied Sciences
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Volume 8, Issue 3; Jul-Sep 2009
tractures present at birth. In the classic form of AMC all four 
limb are involved, but the condition can also occur in the up-
per or lower limb. An autosomal dominant variant called distal 
arthrogryposis  involves  the  hand  and  feets  with  severe  de-
formation.[5 ] Multiple joint contracture occur at birth because 
of limitation of movement in utero and the causative factors 
like a) Neuropathy b) Myopathy c) Abnormal connective tis-
sue involving joints d) In utero restraint and e) Maternal ill-
ness.[6] Infants born to mothers affected with myotonic dys-
trophy, myasthenia gravis, or multiple sclerosis are at risk of 
AMC. After extensive search in medical literature no single 
case is reported that infant of diabetic mother are at risk of 
arthrogryposis.  In our  case,  IDM baby who had lower  limb 
arthrogryposis along with multiple other congenital anomalies 
was present.
The  clinical  manifestations  in  arthrogryposis  is  mainly  in-
volved the extremities with thin subcutaneous tissue and ab-
sent skin creases. Symmetrical deformities increases distally, 
with the hands and feet deformed and joint dislocation, espe-
cially  the  hips.  Normal  sensation  and  deep  tendon  reflexes 
may be diminished or absent. Contractures, especially of distal 
joints are affected more frequently than proximal joints. Limb 
deformities include pterygium, shortening, webs, compression, 
dislocated radial heads, and dimples. It is very rare that upper 
limb  is  spared  and  only  lower  limb  is  affected  which  was 
present in our case. Other deformities include scoliosis, genital 
deformities,  and  hernia  (inguinal,  umbilical).  There  may  be 
many other  malformations  of  the skeleton,  respiratory tract, 
urinary system and nervous system.[4-6]
The incidence  of  congenital  anomalies  mainly  cardiac  mal-
formation and lumbosacral agenesis is increased threefold in 
IDM. Other anomalies include neural tube defect, hydroneph-
rosis,  renal agenesis,  duodenal or anorectal atresia,  situs  in-
versus,  double ureter and holoprosencephaly.  Congenital an-
omalies in IDM babies correlelate with poor metabolic control 
during the periconception and organogenesis periods and may 
be due to hyperglycemia induced teratogenesis.[7 ] The mech-
anism by which  hyperglycemia  disturb  embryonic  develop-
ment is controversial, but reduced arachidonic acid and myo-
inositol levels and accumulation of sorbitol and trace metals in 
the conceptus have been reported.[7-8] X-ray of all joints may 
show bony abnormalities. Neurosonography can help in evalu-
ating the CNS and abdomoinal sonography is helpful for other 
viscera for anomalies. CT scan and MRI can be used to evalu-
ate the CNS and the muscle mass. Lower-limb alignment and 
establishment of stability for ambulation and upper-limb func-
tion for self-care is the main goal. Improves passive and active 
range of motion if early manipulation started soon after birth. 
Physical therapy to improve the range of motion in and stretch 
surrounding  tissues is  very useful,  especially  in  amyoplasia 
and distal arthrogryposis.[9] Surgery is rarely needed to cor-
rect soft tissue contractures and joint deformities.[10] In con-
clusion, lower limb arthrogryposis is a very rare manifestation 
in infant of diabetic mother and should be managed conservat-
ively.
References:
1. Cordero  L,  Landon  MB.  Infant  of  the  diabetic 
mother. Clin Perinatol 1993;20:635-48.
2. Nold JL, Georgieff MK. Infant of diabetic mothers. 
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637.
3. Suevo  DM.  The  infant  of  the  diabetic  mother. 
Neonatal Netw 1997;16:25-33.
4. Tyrala E. The infant of the diabetic mother. Obstet-
rics  and  Gynecology  Clinics  of  North  America 
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5. Hosalkar  HS,  Drummond DS.  Arthrogryposis.  In 
Behrman RE, Kleigman RM, Jenson HB, Stanton 
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6. Hall JG. Genetic aspect of arthrogryposis. Clin Or-
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