, Ratna Maheshwari2 and Shalin Maheshwari2
(2)
Pediatric Orthopedics, Childrens’ Orthopedic Centre, Mumbai, India
Overview/Definition
Congenital limb defects are rare foetal anomalies with a birth prevalence of 0.55 per 1,000.
Amelia: Rare birth defect with complete absence of the skeletal parts of a limb is generally thought to be a sporadic anomaly. It is a terminal transverse deficiency.
Ectromelia: Total or partial absence of one or more long bones or limbs.
Phocomelia: Absence of the arm and forearm in the upper limb or the thigh and leg in the lower limb (i.e. the hands or feet sprout directly from the trunk); the deficiency may be proximal (arms or thighs missing) or distal (forearms or legs missing). This is an intercalary transverse deficiency.
Aetiology
Amelia can be isolated defect or with associated malformations, particularly abdominal wall and renal anomalies.
Teratogens such as thalidomide, alcohol, vascular compromise by amniotic bands or other causes and maternal diabetes have been reported to cause this severe limb deficiency.
Amelia may be attributed to the early stages of health complications during pregnancy, including infection, failed abortion or even the complications associated with removal of an IUD after pregnancy.
Different modes of inheritance have been involved in the aetiology of amelia including autosomal recessive, X-linked dominant and autosomal mode of inheritance which indicate the genetic heterogeneity of this condition. Tetra-amelia syndrome appears to have autosomal recessive pattern of inheritance.
Pathoanatomy
By 7 weeks of embryonic life, the formation of all parts of the upper and lower limbs is essentially complete.
Most limb deficiencies occur early in the period of limb morphogenesis, when there is rapid proliferation and differentiation of cells and tissues. This “sensitive period” of limb formation peaks during the fifth and sixth weeks after fertilisation.
The subclavian artery disruption sequence has been proposed as a common pathway, but this remains speculative.
The presence of ectoderm-derived tissues (skin, nails, distal phalangeal tufts) supports the concept of failure of normal mesodermal proliferation.
Evaluation
Prenatal diagnosis including detailed ultrasound and amniocentesis plays a major role in counselling parents with foetal anomalies.
Children with phocomelia can have abnormalities in the face, ears, nose and vessels in addition to limbs. Infants will have a petite head with sparse hair that may appear “silvery blonde”. Haemangioma can develop around facial area at birth with hypertelorism.
Treatment
Advances in prosthetic limbs with the use of new materials have increased greatly. Myoelectric prosthetic limbs can detect electrical signals from the nervous system and muscles.
Infants as early as 6 months are fitted with prosthetic mitten, enabling them to get used to the prosthesis.
Bibliography
1.
Baron E, Clarke S, Solomon C. The two stage myoelectric hand for children and young adults. Orthot Prosthet. 1983;37:11.
2.
Bavinck JN, Weaver DD. Subclavian artery supply disruption sequence: hypothesis of a vascular etiology for Poland, Klippel-Feil, and Mobius anomalies. Am J Med Genet. 1986;23:903.
3.
Froster-Iskenius UG, Baird PA. Amelia: incidence and associated defects in a large population. Teratology. 1990;41(1):23–31. doi:10.1002/tera.
2 Radioulnar Synostosis
Ashok Johari3 , Ratna Maheshwari3 and Shalin Maheshwari3
(3)
Pediatric Orthopedics, Childrens’ Orthopedic Centre, Mumbai, India
Take-Home Message
Majority of children with radioulnar synostosis have forearm fixed in pronation.
The magnitude of functional limitations must be considered while planning therapy.
Any corrective surgery if considered necessary should be undertaken before the child adapts to the current position of the forearm.
There are no good long-term reports for resection of synostosis as a procedure.
Rotation osteotomy can be considered in bilateral cases, with severe pronation deformity, with significant disability in activities of daily living. However, this procedure is associated with a high complication rate.
Definition
This condition represents a failure of differentiation in the proximal forearm.
It is an isolated anomaly in one-third of cases, and bilateral involvement is seen in 60 % of affected children.
Aetiology
The exact event that causes failure of separation is unknown.
Syndromes such as Poland syndrome, Apert syndrome, arthrogryposis, Klinefelter syndrome and many others are associated with congenital radioulnar synostosis.
Pathophysiology
Congenital radioulnar synostosis represents a failure of differentiation in the primitive mesenchymal condensations that occur in the proximal forearm at approximately 5 weeks of gestation.
The humerus, radius and ulna all arise from a shared mesenchymal anlage that later condenses into cartilage and separates into individual bones. Failure of this process to properly occur can result in radioulnar synostosis.
The process of separation occurs at the time the foetal forearm is in a position of pronation; this explains why in the majority of children with congenital radioulnar synostosis, the forearm is fixed in pronation.
Radiology and Classification
Type I involves a smooth fusion of the radius and ulna proximally for a variable distance, typically 2–6 cm.
Type II is a fusion just distal to the proximal radial epiphysis associated with a congenital dislocation of the radial head. There may be compromised elbow extension in this type.
Treatment
Nonoperative
The magnitude of functional limitations must be considered while planning therapy.
Pronation is a good position for writing and keyboard tasks when they become adults. Increased compensatory rotation at the carpus, wrist and shoulder is usually adequate for most activities.
In rare bilateral cases with marked pronation deformities, the child may have difficulties in daily functional activities.
Operative: The surgical decision should be based on the difficulties in forearm functioning affecting the quality of life, rather than just the degree of pronation.
Resection
The procedure of resection of synostosis is technically demanding, and results are often unsatisfactory. One reason for failure is the reformation of synostosis. Interposition of various materials in the resection gap has been tried, and of these, vascularised fat graft seems to be the most promising. However, there are no good long-term reports of this method, and so most surgeons do not choose this procedure.
Rotational osteotomy
This is the favoured procedure when functional limitations are severe enough to require repositioning of the forearm. Surgically increasing supination can improve forearm function, and the loss of pronation can be easily compensated by the shoulder. The site of osteotomy can be either through the synostosis or in the diaphyses of both bones. It is recommended that in bilateral cases, the dominant hand should be left in 20° of pronation and the nondominant hand in neutral.
Fixation can be by cast, intramedullary nail and cross-pin fixation. In older children, low-profile plates can be used.
Ideally, any corrective surgery should be undertaken before the child adapts to the current position of the forearm.
Complications
Rotational osteotomies can cause nerve palsies, vascular compromise, compartment syndrome and malunion.
Bibliography
1.
Green WT, Mital MA. Congenital radio-ulnar synostosis: surgical treatment. J Bone Joint Surg Am. 1979;61:738–43.
2.
Kanaya F, Ibaraki K. Mobilization of a congenital proximal radio-ulnar synostosis with use of free vascularized fascio-fat graft. J Bone Joint Surg Am. 1998;80:1186–92.
3.
Shingade VU, Shingade RV, Ughade SN. Results of single- staged rotational osteotomy in a child with congenital proximal radioulnar synostosis: subjective and objective evaluation. J Pediatr Orthop. 2014;34:63–9.
4.
Simmons BP, Southmayd WW, Riseborough EJ. Congenital radioulnar synostosis. J Hand Surg [Am]. 1983;8:829–38.
3 Madelung Deformity
Ashok Johari4 , Ratna Maheshwari4 and Shalin Maheshwari4
(4)
Pediatric Orthopedics, Childrens’ Orthopedic Centre, Mumbai, India
Take-Home Message
Volar and ulnar aspect of distal radial physis slows or stops growth prematurely. Continued normal growth of both ulnar physis and remaining dorsal, radial aspect of radial physis, results in ulnar overgrowth, carpal subluxation and radial articular deformity.
The treatment principle of physiolysis involves resection of abnormal volar, ulnar physeal region of radius and fat interposition.
Aberrant tethering anatomic structures are excised.
Patient presenting late with marked deformity and symptoms is addressed with corrective osteotomy. Ulnar overgrowth is treated with an ulnar shortening procedure.
Definition
Madelung deformity is described as a growth deformity of the distal radius. The deformity in classical Madelung deformity is an ulnar and volar deviation of the wrist with prominence of the lower end of the ulna.
The deformity is more frequently seen in girls, usually appearing at around 12 years of age, during time of adolescent growth spurt, and gradually progressing until skeletal maturity.
Aetiology
Generally sporadic in nature.
Can be associated with Léri-Weill syndrome, a dyschondrosteosis form of mesomelic dwarfism.
It has also been associated with Hurler mucopolysaccharidosis, Turner syndrome, osteochondromatosis, achondroplasia and Ollier disease.
Pathoanatomy
The arrest of volar, radial aspect of distal radial physis causes subsequent deformity of radiocarpal, radioulnar and ulnocarpal joints.
Vickers et al. have described abnormal tethering of soft tissues from distal radius to carpus and ulna.
The soft tissue tether is usually a strong abnormal ligament and pronator quadratus muscle insertions that links the proximal pole of the lunate to the palmar and ulnar cortex of the distal radius.
Radiology
Increased tilt of radial articular surface from dorsal radial corner of styloid to the volar, ulnar aspect of depleted lunate fossa.
The ulnar variance is more positive, with carpal overload and dorsal subluxation.
The carpus migrates more proximal into the increasing diastasis between radius and ulna on anteroposterior radiograph.
Treatment
Physiolysis
Early physiolysis has been recommended by Vickers and Nielsen, who have shown that the procedure can arrest progression of the deformity and restore normal growth of the radius quite effectively.
The operation entails resection of a sliver of bone from the ulnar aspect of the distal radius, identifying the growth plate, ensuring that any bone bridge is removed and placing fat graft astride the growth plate to prevent a bridge from reforming.
Resection of the soft tissue tether.
Should be done whenever physiolysis is undertaken. The wrist joint has to be opened as the abnormal ligament is attached to the lunate. When done in conjunction with physiolysis, the entire ligament can be followed to its proximal attachment to the radius and excised.
Corrective osteotomy of the distal radius.
An established deformity in a long-standing case can be improved by an osteotomy of the distal radius. In classical Madelung deformity, a dorsal- and lateral-based wedge of bone is excised from the distal radius close to the articular surface.
Excision of the distal ulna can remove the unsightly prominence in the older patient with established deformity. This may be combined with the osteotomy of the distal radius.
Bibliography
1.
Nielsen JB. Madelung’s deformity: a follow- up study of 26 cases and a review of literature. Acta Orthop Scand. 1977;48:379.
2.
Ranawat CS, DeFieore J, Straub LR. Madelung’s deformity: an end- result study of surgical treatment. J Bone Joint Surg Am. 1975;57:772.
3.
Vickers DW. Madelung deformity. In: Gupta A, Kay SPJ, Scheker LR, editors. The growing hand. London: Harcourt; 2000. p. 791–8.
4.
Vickers D, Nielsen G. Madelung’s deformity: treatment of osteotomy of the radius and Lauenstein procedure. J Hand Surg Am. 1987;12:202.
4 Radial Club Hand
Ashok Johari5 , Ratna Maheshwari5 and Shalin Maheshwari5
(5)
Pediatric Orthopedics, Childrens’ Orthopedic Centre, Mumbai, India
Take-Home Message
RLD is commonly associated with other congenital anomalies, including TAR, Fanconi anaemia, Holt-Oram syndrome and VACTERL association.
Elbow stiffness precludes surgery.
Definition
Radial club hand is a complex congenital anomaly involving failure of formation of structure on the preaxial border of the upper limb. The deficiency involves the skeleton, muscles and tendons, nerves and vessels and other soft tissues of the entire upper limb to a greater or lesser extent.
Aetiology
Radial club hand may be an isolated anomaly or may be associated with one of a host of complex syndromes. Unilateral radial club hand is often an isolated anomaly, while the bilateral form is more frequently associated with syndromes.
RLD is associated with several congenital conditions and syndromes:
Thrombocytopenia-absent radius (TAR)—Low platelet count that normalises over time
Fanconi anaemia—Platelet and blood cell counts normal at birth but decrease dramatically during first few years of life; diagnosed with mitomycin-C chromosomal challenge test; treated with bone marrow transplantation
Holt-Oram syndrome—RLD with congenital heart disease, typically atrial or ventricular septal defects
VACTERL—Constellation of anomalies including vertebral, anal, cardiac, tracheal, esophageal, renal, and limb
Pathophysiology
In addition to skeletal deficiencies, there are similar deficiencies of soft tissue structures (e.g. radial artery, median nerve, flexor carpi radialis).
Radiology and Classification
Bayne classification
Delayed appearance of distal epiphysis, slightly shortened radius
Deficient growth proximal and distal, considerably shortened radius
Partial absence of the radius (distal and middle thirds most common)
Completely absent radius (most common)
Evaluation
Look for the following:
Elbow flexion contracture
Shortened and/or bowed forearm
Radial deviation of the wrist
Aplasia or hypoplasia of the thumb
Treatment
No intervention is the preferred option if either the function of the hand is so near normal that surgery is unlikely to make a difference or when surgery may actually jeopardise existing function.
Elbow stiffness also precludes surgery.
Surgery should also be avoided if the child has adjusted to his deformity.
In type I, radial club hand with mild radial deviation of the wrist and stability of wrist joint serial manipulation and casting in early infancy is effective in correcting the deformity. In cases of wrist instability, radial lengthening may be an effective option.
For severe degrees of types II, III and IV radial club hand, centralisation or more recently radialisation is a popular surgery.
Corrective osteotomy of the bowed ulna may be performed in conjunction with either an operation to stabilise the wrist (radialisation or centralisation) or at the time of ulnar lengthening.
Bibliography
1.
Bayne LG, Klug MS. Long-term review of the surgical treatment of radial deficiencies. J Hand Surg [Am]. 1987;12:169–79.
2.
D’Arcangelo M, Gupta A, Scheker LR. Radial club hand. In: Gupta A, Kay SPJ, Scheker LR, editors. The growing hand. London: Harcourt Publishers Limited; 2000. p. 147–70.
3.
Dobyns JH, Wood VE, Bayne LG. Congenital hand deformities. In: Green DP, editor. Operative Hand Surgery, vol. 1. 3rd ed. New York: Churchill Livingstone; 1993. p. 288–303.
5 Ulnar Haemimelia
Ashok Johari6 , Ratna Maheshwari6 and Shalin Maheshwari6
(6)
Pediatric Orthopedics, Childrens’ Orthopedic Centre, Mumbai, India
Take-Home Message
Typically, the wrist is stable, but elbow function is compromised.
The main problems that can arise in an ulnar club hand include progressive bowing of radius, proximal migration of dislocated radial head, hand anomalies and loss of elbow motion.
Definition
Ulnar club hand is a longitudinal deficiency of the postaxial border of the upper limb with abnormalities of the elbow, forearm, wrist and hand.
Aetiology
Ulnar club hand is frequently associated with other anomalies or syndromes. Can be associated with rare inheritable syndromes, such as ulnar mammary syndrome, Klippel-Feil syndrome and other nongenetic syndromes such as Cornelia de Lange syndrome.Related posts:
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