Journal of Datta Meghe Institute of Medical Sciences University

: 2022  |  Volume : 17  |  Issue : 4  |  Page : 954--956

A rare case of amyoplasia type of arthrogryposis multiplex congenita with midfacial hemangioma in a neonate

Mahaveer Singh Lakra 
 Department of Pediatrics, Jawaharlal Nehru Medical College, Datta Meghe Institute of Medical Sciences, Wardha, Maharashtra, India

Correspondence Address:
Dr. Mahaveer Singh Lakra
Jawaharlal Nehru Medical College, Sawangi Meghe Datta Meghe Institute of Medical Science, Wardha, Maharashtra


Arthrogryposis multiplex congenita is a condition where multiple contractures of the joint develop, leading to deformity and restriction of movement. It is mostly seen in the neonatal period but the deformity may persist till adulthood also. A 1-day-old male baby presented with multiple deformities and contractures of all four limbs, with breathing difficulties. On examination, there was abnormal shoulder adduction with elbow extension and ulnar deviation of the wrist with thumb and finger deformity. In the lower limb, severe knee flexion with severe bilateral talipes equinus deformity was seen. A midfacial hemangioma and ear abnormalities were also present along with a skin dimple over both knees. The child was investigated fully for other congenital and systemic malformations. Finally, a diagnosis of the amyotrophic type of arthrogryposis congenita with facial hemangioma was made, which is a very rare association. The patient was managed by a multidisciplinary team approach and was discharged successfully. When a baby is presented with such a deformity, then the child should be screened fully and a genetic study should be done to prevent a recurrence of malformation in a subsequent pregnancy. The aim is to prevent early contractures and to restore limb function in the child and proper follow-up.

How to cite this article:
Lakra MS. A rare case of amyoplasia type of arthrogryposis multiplex congenita with midfacial hemangioma in a neonate.J Datta Meghe Inst Med Sci Univ 2022;17:954-956

How to cite this URL:
Lakra MS. A rare case of amyoplasia type of arthrogryposis multiplex congenita with midfacial hemangioma in a neonate. J Datta Meghe Inst Med Sci Univ [serial online] 2022 [cited 2023 Jun 7 ];17:954-956
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Arthrogryposis multiplex congenita (AMC) per se is not a disease but an entity involving isolated or multiple joint contractures, which is nowadays known as multiple contracture diseases. True incidences of this disease cannot be exactly made out as most of the babies had undergone stillbirth and intrauterine death.[1] The incidence varies from 1 in 3000–5000 per live birth. Amyoplasia with a facial hemangioma is a very rare entity. Approximately 90% of the babies have some other type of birth defect or systemic anomaly. It is the abnormality of limb contractures and limitation of movement with deformity. Hall et al.[2] described various types of varieties in the literature involving single isolated limbs, multiple limbs, symmetrical or asymmetrical, and associated with other systemic anomalies also. Although AMC is not a rare entity, its association with hemangioma is a rare phenomenon and only a few cases have been reported in the literature. Here, we are reporting a rare case of amyoplasia type of AMC with midfacial hemangioma.

 Case Report

A baby is born to a G3P2 L1 mother by emergency lower-segment cesarean section (LSCS) in view of nonprogression of labor due to oligohydramnios. There was no history of any decreased fetal movement or any miscarriage in the mother. The baby cried immediately after birth. The child was shifted to the neonatal intensive care unit in view of tachypnea and multiple anomalies. On examination, Spo2 was 88% and mild tachypnea with grunt was present. The baby was started on oxygen by nasal cannula. Multiple abnormal contractures of the upper limb were seen. The upper limb was thin and slender with poor muscle bulk but had no obvious shortening. All movement on both hands was painful and restricted, and multiple contractures were present in the upper limb. The lower limb also had abnormal contractures with tense skin over the joint and flexion at the knee joint. As shown in [Figure 1], contractures at the knee were present with minimal extension and bilateral talipes equine-varus deformity was present as shown in [Figure 1]. There was no shoulder or hip dislocation noted.{Figure 1}

The arms were thin, internally rotated with extension at the elbow, which was in a pronation position with ulnar deviation of the wrist with abnormal finger deformity. Abnormal dermatographia along with camptodactyly was present along with a flexed thumb in a fisting position as shown in [Figure 1]. On head-to-toe examination, facial dysmorphism was present in the form of a high-arched palate, low set and deformed pinna, flat scalp, flat face, and short neck. There was an erythematous, shiny, hemangioma patch was present over the nose, upper lip, upper eyelid of the left eye, and lower part of the forehead, and four dimples varying in size, approximately 1–2 cm over both the knees as shown in [Figure 2].{Figure 2}

The abdominal, central nervous, and cardiovascular system examinations were all normal. All screening tests such as infantogram, Ultrasonography of abdomen, neurosonography brain, and echocardiography were done to rule out any associated systemic anomalies, which were found to be normal. The respiratory distress of the patient was settled and finally, the diagnosis of AMC, amyotrophic variety, with facial hemangioma and multiple congenital anomalies was made.

For limb deformity, an orthopedic opinion was sought, who advised conservative management through limb manipulation. Parents were advised on karyotyping and genetic study but they did not perform it due to financial constraints. A magnetic resonance imaging brain was also done to rule out any other intracranial anomalies but was found to be normal. The baby was followed up in the high-risk outpatient department for deformity and developmental delay. The contractures were taken care of by manipulation, physiotherapy, and plaster of limbs, and tendon release surgery was planned for subsequent visits.


AMC is a type of skeletal abnormality where multiple joints develop contractures. There are more than 300 different varieties and a syndrome of AMC has been described in the literature. It may be isolated or may involve other body parts also. Sometimes it is associated with other systemic anomalies such as gastroesophageal fistula, congenital heart disease, pulmonary aplasia, renal agenesis, and duodenal atresia.[2] Yang et al.[3] have reported a case of amyoplasia variety in association with limb contractures with bilateral congenital talipes equinovarus and facial hemangioma.

The exact etiology is not clear and is said to be multifactorial such as uterine crowding, oligohydramnios, decreased fetal movement, and genetic causes. Most of the time, it is sporadic and the syndromes are usually inherited. The reason may be due to the weakness of muscle due to myopathy, muscular dystrophy, neurological disease of fetus, metabolic and vascular.[4] Amyoplasia is the most common type of variety, accounting for 43% of overall reported cases, and there is no racial tendency seen with this entity. In our case, the cause was oligohydramnios as there was no significant family history or any fetal demise during the antenatal period and LSCS was done in view of the nonprogression of labor due to oligohydramnios. It is mainly of three main types: amyotrophic, distal type, and syndromic type. Syndromic types are mostly associated with abnormal neurological examinations and generally run in families. The distal type affects all distal joints of the extremity as well as the proximal joint.

In the amyoplasia type, the limb is thin, hypotonic with adduction at the shoulder and internal rotation with extension at the elbow with flexion of fingers. The various classifications based on involvement and type of inheritance have been described.[2] The various abnormalities associated with AMC are thin flabby limbs, contractures and flexed multiple joints, skin abnormalities, flexed fingers with pronation, typical posture of the thumb and fingers, spine and skeletal abnormalities, and cardiac and internal organ defects.[5] Hall et al.[2] described similar cases in babies of amyoplasia, typically showing camptodactyly, dimples over the skin, and bilateral severe equinus deformity. A rare association is the presence of facial hemangioma, which is only seen in a very small number of cases. In our case, most of the above deformities were present and all four limbs were involved symmetrically, along with facial dysmorphism and hemangioma. Hemangioma was also present over the face, which is generally seen in association with the amyotrophic type.[3]

Hemangiomas are benign abnormal vascular proliferation and malformations that lead to abnormal growth of the vascular bed. The pathogenesis is the defect in the migration of the neuronal ectodermal plate and the involvement may be segmental or localized. Various types of hemangioma, such as facial, frontal, and maxillary have been defined.[6] Some of them may be present at birth, giving a birthmark appearance. Most of them are benign, regressing over time, and completely disappearing by infancy. A similar type of case was also reported by Yang et al.[3] where amyotrophic AMC was associated with hemangioma.

The diagnosis of AMC is mainly a clinical diagnosis and the infantogram should be done to rule out any fractures and shoulder and hip dislocation. All routine screenings such as USG abdomen, neurosonography, infantogram, and echocardiography are needed to rule out other associated systemic anomalies.[7] Treatment is mainly conservative with active limb movement, manipulation, and targeting to prevent further limb contractures. If manipulation and conservative treatment fail, then serial casting and tendon release of contractures are required.[8]


Arthrogryposis multiplex congenita is mainly a disease of multiple contractures with skeletal deformity and varying systemic involvement. Amyotrophic with a midfacial hemangioma is a very rare association. The treatment is mainly conservative with regular follow-up. The knowledge of the variety and classification of this entity is important from the patient's perspective and for further management of the child.

Take away message

The aim of highlighting this entity is to raise awareness about this disease among clinicians. The proper neurological examination, full systemic evaluation, genetic screening, and categorization of this entity are important from treatment and prognostic point of viewThe treatment should be started earlier to prevent functional loss and to prevent limb contractures and deformityBaby's and parental screening should be done so that this deformity can be prevented in a subsequent pregnancy, and relatives must be counseled regarding these malformations and their recurrence rateThese babies must be followed up for motor, developmental, and intellectual disabilities. The multidisciplinary team approach is required for the successful management and prevention of disability in the future.

Patients' perspectives

When my baby was born, he had limb and other body part anomalies and difficulty breathing. The doctors shifted my baby immediately and started treatment. All investigations were done and explained all about the disease. A genetic study was advised in view of a further pregnancy and baby. My baby was discharged in stable condition and advised to be in follow-up for the correction of limb deformity and intellectual disability. I am happy with the hospital, the way the doctors' team has taken care of my baby, and their advice for future pregnancy.

Declaration of patient consent

The authors clarify that they have obtained all appropriate consent from patients' relatives. In the form, the relatives have given their consent for the images and other clinical information to be reported in the journal. They understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship


Conflicts of interest

There are no conflicts of interest.


1Velisavljev-Filipović G. Arthrogryposis multiplex congenita – A rare congenital stiff joints syndrome. Med Pregl 2006;59:375-9.
2Hall JG, Aldinger KA, Tanaka KI. Amyoplasia revisited. Am J Med Genet A 2014;164A: 700-30.
3Yang MT, Chen CH, Mak SC, Wu KH, Chi CS. Arthrogryposis multiplex congenita: Report of a case of amyoplasia. Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi 1993;34:132-6.
4Linnet KM, Balslev T, Møller-Madsen B. Arthrogryposis multiplex congenita. Ugeskr Laeger 2015;177:V12140712.
5Bamshad M, Van Heest AE, Pleasure D. Arthrogryposis: A review and update. J Bone Joint Surg Am 2009;91 Suppl 4:40-6.
6Haggstrom AN, Lammer EJ, Schneider RA, Marcucio R, Frieden IJ. Patterns of infantile hemangiomas: New clues to hemangioma pathogenesis and embryonic facial development. Pediatrics 2006;117:698-703.
7Griffet J, Dieterich K, Bourg V, Bourgeois E. Amyoplasia and distal arthrogryposis. Orthop Traumatol Surg Res 2021;107:102781.
8Singh LD, Singh AJ, Singh LN. Comprehensive multidisciplinary rehabilitation of arthrogryposis multiplex congenita. JCR 2020;10:208-13.