Use of Paley Classification and SUPERankle Procedure in the Management of Fibular Hemimelia.

BACKGROUND: Fibular hemimelia is the most common deficiency involving the long bones. Paley classification is based on the ankle joint morphology, identifies the basic pathology, and helps in planning the surgical management. Reconstruction surgery encompasses foot deformity correction and limb length equalization. The SUPERankle procedure is a combination of bone and soft tissue procedures that stabilizes the foot and addresses all deformities. METHODS: We retrospectively reviewed 29 consecutive patients (29 limb segments), surgically treated between December 2000 and December 2014. Among the 29 patients, 27 were treated with reconstructive procedures. Type 1 (8 patients) cases were treated with only limb lengthening, and correction of tibial deformities. Type 2 (7 patients) cases were treated by distal tibial medial hemiepiphysiodesis or supramalleolar varus osteotomy. In type 3 (10 patients) cases, the foot deformity was corrected using the SUPERankle procedure. Type 4 (2 patients) cases were treated with supramalleolar osteotomy along with posteromedial release and lateral column shortening. In a second stage, limb lengthening was performed, using the Ilizarov technique. In the remaining 2 patients (type 3A and type 3C), amputation was performed using Syme technique as a first choice of treatment. RESULTS: The results were evaluated using Association for the Study and Application of Methods of Ilizarov scoring. Excellent results were obtained in 15 of 27 (55%) patients. Six (22%) patients had good results, 4 (14.8%) had fair results, and 2 (7%) had poor results. Mean limb length discrepancy at initial presentation was 3.55 cm (range: 2 to 5.5 cm) which significantly improved to 1.01 cm (range: 0 to 3 cm) after treatment (P=0.015). CONCLUSIONS: Our results and a review of the literature clearly suggest that limb reconstruction according to Paley classification, is an excellent option in the management of fibular hemimelia. Our 2-staged procedure (SUPERankle procedure followed by limb lengthening) helps in reducing the complications of limb lengthening and incidence of ankle stiffness. Performing the first surgery at an earlier age (below 5 y) plays a significant role in preventing recurrent foot deformities. LEVEL OF EVIDENCE: Level IV.

Severity grading in radial dysplasia.

A functional scoring method to grade the usefulness and quality of the upper limbs in congenital radial dysplasia is presented. It is based on the author's examinations of 44 arms with congenital deficiency of the radius. The hand (H), wrist (W) and proximal parts (P) of the extremity are each scored from 0 to 10 points for severity. The scoring is expressed similarly to the TNM (tumour, nodes, metastasis) tumour classification, for example as H5W4P2. The maximum severity index is 30 points. A severity grade of mild is between 1 and 8 points, moderate between 9 and 16 points and severe 17 points and over. In the author's series, the grades were mild in eight, moderate in 21 and severe in 15 cases. The functional severity grading should allow better comparison of radially deficient limbs and the results of treatment between groups of patients.

Concurrent dorsal dimelia in 160 consecutive patients with congenital anomalies of the hands and feet.

This study was designed to investigate the prevalence of dorsal dimelia in a series of 160 consecutive patients with congenital anomalies of the hands and feet, and to investigate the distribution of dorsal dimelia and the concurrent anomalies. Five cases (3.1%) showed evidence of dorsal dimelia and the distribution of dorsal dimelia was similar to the distribution of concurrent anomalies in all five cases. Another 11 cases of concurrent dorsal dimelia with other congenital anomalies have been reported previously with a positive match in the distributions in all cases. This similarity in the distribution in all 16 reported cases (including the five cases in the current study) is statistically significant. It is concluded that dorsal dimelia in humans is not as rare as it is generally thought to be, and that it may be viewed as an error of dorso-ventral patterning, which occurs in the same distribution as other concurrent anomalies.

Sirenomelia and severe caudal regression syndrome.

OBJECTIVE: To describe cases of sirenomelia and severe caudal regression syndrome (CRS), to report the prevalence of sirenomelia, and compare our findings with the literature. METHODS: Retrospective data was retrieved from the medical records of infants with the diagnosis of sirenomelia and CRS and their mothers from 1989 to 2010 (22 years) at the Security Forces Hospital, Riyadh, Saudi Arabia. A perinatologist, neonatologist, pediatric neurologist, and radiologist ascertained the diagnoses. The cases were identified as part of a study of neural tube defects during that period. A literature search was conducted using MEDLINE. RESULTS: During the 22-year study period, the total number of deliveries was 124,933 out of whom, 4 patients with sirenomelia, and 2 patients with severe forms of CRS were identified. All the patients with sirenomelia had single umbilical artery, and none were the infant of a diabetic mother. One patient was a twin, and another was one of triplets. The 2 patients with CRS were sisters, their mother suffered from type II diabetes mellitus and morbid obesity on insulin, and neither of them had a single umbilical artery. Other associated anomalies with sirenomelia included an absent radius, thumb, and index finger in one patient, Potter's syndrome, abnormal ribs, microphthalmia, congenital heart disease, hypoplastic lungs, and diaphragmatic hernia. CONCLUSION: The prevalence of sirenomelia (3.2 per 100,000) is high compared with the international prevalence of one per 100,000. Both cases of CRS were infants of type II diabetic mother with poor control, supporting the strong correlation of CRS and maternal diabetes.

Birth defects associated with perturbations in preimplantation, gastrulation, and axis extension: from conjoined twinning to caudal dysgenesis.

Congenital malformations represent approximately 3 in 100 live births within the human population. Understanding their pathogenesis and ultimately formulating effective treatments are underpinned by knowledge of the events and factors that regulate normal embryonic development. Studies in model organisms, primarily in the mouse, the most prominent genetically tractable mammalian model, have equipped us with a rudimentary understanding of mammalian development from early lineage commitment to morphogenetic processes. In this way, information provided by studies in the mouse can, in some cases, be used to draw parallels with other mammals, including human. Here, we provide an overview of our current understanding of the general sequence of developmental events from early cell cleavages to gastrulation and axis extension occurring in human embryos. We will also review some of the rare birth defects occurring at these stages, in particular those resulting in conjoined twinning or caudal dysgenesis.

A report of two cases of Al-Awadi Raas-Rothschild syndrome (AARRS) supporting that "apparent" Phocomelia differentiates AARRS from Schinzel Phocomelia syndrome (SPS).

Although there is a long list of syndromes with phocomelia, there are only two syndromes in which there is concurrent pelvic dysplasia and phocomelia: Al-Awadi-Raas-Rothschild syndrome (AARRS) and Schinzel phocomelia syndrome (SPS). Currently, there is a diagnostic confusion between the two syndromes and both have the same MIM entry (MIM 276820). We believe that the two syndromes are different entities and we also believe that the limb defect in SPS is a "true" phocomelia while the limb defect in AARRS is an "apparent" phocomelia. "Apparent" phocomelia describes the most severe form of ulnar ray deficiency in which there is absent ulna with radio-humeral synostosis. "Apparent" phocomelia is diagnosed radiologically by three radiological features: the apparently single bone occupying the arm/forearm appears relatively long, the area of radio-humeral synostosis will have thicker cortex with or without slight angulation, and the lower end of the bone resembles the lower end of a radius and not a humerus. In this paper, we present two new cases of AARRS from two different Saudi Arabian tribes: one case with R292C mutation of WNT7A with bilateral "apparent" phocomelia and a second case with a novel c.814G>T mutation of the WNT7A gene (resulting in wnt7a protein truncation at position 272) with unilateral "apparent" phocomelia. We reviewed previously reported cases of AARRS and SPS to further delineate the differences between these two syndromes. We make the argument that these two syndromes are two different entities and hence require two different MIM entries.

Congenital upper limb deficiencies and associated malformations in Finland: a population-based study.

PURPOSE: To calculate the national incidence of upper limb deficiencies and associated infant mortality in children in Finland using the International Federation of Societies for Surgery of the Hand (IFSSH) classification. Radial ray deficiency, ulnar ray deficiency, central ray deficiency, transverse arrest, phocomelia, undergrowth, and constriction band syndrome with skeletal defects were evaluated. METHODS: We reviewed upper limb deficiencies among all 753,342 births in Finland during 1993 to 2005 reported to the Finnish Register of Congenital Malformations. Classification of these upper limb deficiencies was done according to a modified IFSSH system. We calculated incidence, gender and side distributions, frequency of associated anomalies, and infant mortality rates in different subtypes of the deficiencies. Familial occurrence of congenital upper limb defects was recorded. RESULTS: A total of 419 cases (234 male, 185 female) of upper limb deficiencies were identified. The national incidence of upper limb deficiencies was 5.56 per 10,000 births and 5.25 per 10,000 live births. The most common upper limb abnormality was radial ray deficiency (138), followed by subgroups of undergrowth (91), upper limb defects due to constriction band syndrome (51), central ray deficiency (41), and ulnar ray deficiency (33). Perinatal mortality was 14%. Infant mortality among children with upper limb deficiencies was 137 per 1,000 live births, compared with an overall infant mortality of 3.7 per 1,000 live births in Finland. Additional birth defects were found in 60% of these children. Prevalence of upper limb defects in relatives of the census population was 2% (11 of 419). CONCLUSIONS: The national incidence of upper limb deficiencies is 5.25 per 10,000 live births. Congenital upper limb deficiencies are associated with additional birth defects in two thirds of cases. These children, especially children with radial ray deficiency, have a high perinatal mortality rate. When divided into subgroups using IFSSH classification, differences emerge in both associated anomalies and mortality.

Limb lengthening and deformity correction by the Ilizarov technique in type III fibular hemimelia: an alternative to amputation.

BACKGROUND: Fibular hemimelia is partial or total aplasia of the fibula; it represents the most frequent congenital defect of the long bones. It usually is associated with other anomalies of the tibia, femur, and foot. QUESTIONS/PURPOSES: We reviewed 32 patients with Type III fibular hemimelia treated by successive lower limb lengthening and deformity correction using the Ilizarov method. We had three aims; first, to analyze complications, including the need for reoperation. The second was to assess knee and ankle function, specifically addressing knee ROM and stability and function of the foot and ankle. The third was assessment of overall patient satisfaction. PATIENTS AND METHODS: Thirty-two patients underwent 56 tibia lengthenings and 14 ipsilateral femoral lengthenings. Their mean age and mean functional leg-length discrepancy at initial treatment were 6.7 years and 6.2 cm, respectively. Activity level, pain, patient satisfaction with function, pain, and cosmesis, complications, and residual length discrepancy were assessed at the end of treatment. RESULTS: The mean number of surgeries was six per case. The healing index was 44.9 days/cm. Although complications were observed during 60 lengthenings (82%), the highly versatile system overcame most of them. Nearly equal limb length and a plantigrade foot were achieved by 16 patients. For two patients, a Syme's amputation was performed. The outcome was considered satisfactory in 17 patients (53%) and relatively good in eight patients (25%). CONCLUSIONS: The Ilizarov technique has satisfactory results for treatment of Type III congenital fibular hemimelia and can be considered a good alternative to amputation. LEVEL OF EVIDENCE: Level IV, therapeutic study. See the Guidelines for Authors for a complete description of levels of evidence.

Limb length discrepancy and congenital limb anomalies in fibular hemimelia.

The aim of this study was to determine the prevalence of ipsilateral congenital musculoskeletal anomalies associated with fibular hemimelia. We also attempted to determine the corelation between the eventual limb length discrepancy at maturity and these associated anomalies, as well as the Achterman-Kalamchi class of these patients. The records and roentgenograms of 45 patients with fibular hemimelia were reviewed retrospectively. All patients were classified into three groups (types I-A, I-B, and II) according to the Achterman-Kalamchi system. The prevalence of congenital limb anomalies, lower extremity discrepancy percentage, and ultimate limb length discrepancy at skeletal maturity were evaluated. There was no significant statistical association between the number of congenital limb anomalies and severity of the limb length discrepancy, but patients included in the mildly affected group (type I-A) had a higher average prevalence of congenital limb anomalies than those classified as types I-B and II. There was a substantial correlation between congenital short femur as well as the Achterman-Kalamchi classification system and the predicted limb length discrepancy. A similar percentage of limb length discrepancy in types I-B and II was seen. In conclusion, the numbers of associated congenital limb anomalies are not predictive of the eventual limb length discrepancy. Presence of a congenital short femur and ball and socket ankle are predictive of a higher limb length discrepancy. Achterman-Kalamchi types I-B and II show a similar percentage of limb length discrepancy and this is significantly higher than that seen in type I-A.

Expansion of Carraro syndrome or a new disorder?

A 6-year-old girl is described with a unique, rare type of tibial hemimelia known as Carraro syndrome (OIMI 275230). There are only two previous reports of this condition in the literature. In our patient, the tibia anomaly was associated with other skeletal abnormalities, hemivertebra and tetralogy of Fallot. This association of malformations has not previously been reported. We conclude that this girl has either a variant of Carraro syndrome or a new syndrome.

Clusters of sirenomelia in South America.

BACKGROUND: One hospital in the city of Cali, Colombia, of the ECLAMC (Latin-American Collaborative Study of Congenital Malformations) network, reported the unusual occurrence of four cases of sirenomelia within a 55-day period. METHODS: An ECLAMC routine for cluster evaluation (RUMOR) was followed that included: calculations of observed/expected ratios, site visits, comparison with comprehensively collected local, South American, and worldwide data, cluster analysis, and search for risk factors. RESULTS: All four Cali sirenomelia cases were born to mothers living in a 2 km(2) area, in neighboring communes, within the municipality of Cali. Considering the total births of the city of Cali as the denominator, and based on ECLAMC baseline birth prevalence rates (per 100,000) for sirenomelia (2.25, 95% CI: 2.66, 3.80), the cluster for this congenital abnormality was unlikely to have occurred by chance (observed/expected ratio = 5.77; 95% CI: 1.57-14.78; p = .002). No consistent common factor was identified, but vicinity to an open landfill as the cause could not be rejected. Another ECLAMC hospital in San Justo, Buenos Aires, Argentina, reported three further cases but these did not seem to constitute a nonrandom cluster. CONCLUSIONS: The methodology used to evaluate the two possible clusters of sirenomelia determined that the Cali sirenomelia cluster was unlikely to have occurred by chance whereas the sirenomelia cluster from San Justo seemed to be random.

[Prosthesis use in pediatric patients with fibular hipoplasia]. / Adaptabilidad protésica en pacientes pediátricos con hipoplasia peronea.

OBJECTIVE: To assess the prosthesis adaptability at use of pedestal and transtibial prosthesis, recognize the average average age of amputation surgery, and the complications of the amputation in patients with fibular hemimelia. MATERIAL AND METHODS: 47 patients were evaluated, initially to adjust pedestal prosthesis and when this was not tolerated, we realize amputation and adaptation of transtibial prosthesis, we valued the average age of amputation surgery, the associate complications and the prosthesis adaptability we use the K system for functional ambulation. RESULTS: Of the 12 patients to actually use pedestal prosthesis 9 (75%) had a K.2 level, 3 (25%) had a K-3 level, of the 35 patients to use transtibial prosthesis 1 (3%) had a K-2 level, 19 (54%) K-3 level, and 15 (43%) in the K-4 level. The average age to amputation surgery was 3.9 years old, one case had a complication. DISCUSSION: The early prosthesis adaptability provides advantages in the functional ambulation, as demonstrated on the results. The goal of the transtibial amputation is to facilitate the prosthesis adaptability, is due to take advantage of the best functional adaptation the child in the first years of life, circumstance that improves the integral rehabilitation of the patient.

Upper-extremity phocomelia reexamined: a longitudinal dysplasia.

BACKGROUND: In contrast to longitudinal deficiencies, phocomelia is considered a transverse, intercalated segmental dysplasia. Most patients demonstrate severe, but not otherwise classifiable, upper-extremity deformities, which usually cannot be placed into one of three previously described phocomelia groups. Additionally, these phocomelic extremities do not demonstrate true segmental deficits; the limb is also abnormal proximal and distal to the segmental defect. The purpose of this investigation was to present evidence that upper-extremity abnormalities in patients previously diagnosed as having phocomelia in fact represent a proximal continuum of radial or ulnar longitudinal dysplasia. METHODS: The charts and radiographs of forty-one patients (sixty extremities) diagnosed as having upper-extremity phocomelia were reviewed retrospectively. On the basis of the findings on the radiographs, the disorders were categorized into three groups: (1) proximal radial longitudinal dysplasia, which was characterized by an absent proximal part of the humerus, a nearly normal distal part of the humerus, a completely absent radius, and a radial-sided hand dysplasia; (2) proximal ulnar longitudinal dysplasia, characterized by a short one-bone upper extremity that bifurcated distally and by severe hand abnormalities compatible with ulnar dysplasia; and (3) severe combined dysplasia, with type A characterized by an absence of the forearm segment (i.e., the radius and ulna) and type B characterized by absence of the arm and forearm (i.e., the hand attached to the thorax). RESULTS: Twenty-nine limbs in sixteen patients could be classified as having proximal radial longitudinal dysplasia. Systemic medical conditions such as thrombocytopenia-absent radius syndrome were common in those patients, but additional musculoskeletal conditions were rare. Twenty limbs in seventeen patients could be classified as having proximal ulnar longitudinal dysplasia. Associated musculoskeletal abnormalities, such as proximal femoral focal deficiency, were common in those patients. Eleven limbs in ten patients were identified as having severe combined dysplasia, which was type A in seven of them and type B in four. Four patients with severe combined dysplasia had congenital cardiac anomalies, and four had associated musculoskeletal abnormalities. Three of the four patients with the type-B disorder had a contralateral ulnar longitudinal dysplasia. CONCLUSIONS: We propose that cases previously classified as upper-extremity phocomelia represent a spectrum of severe longitudinal dysplasia, as none of the sixty extremities that we studied demonstrated a true intercalary deficiency. These findings have both developmental and genetic implications.

Findings of fibular hemimelia syndrome with radiographically normal fibulae.

We have noted a number of patients with features of fibular hemimelia with radiographically normal fibulae. This study was undertaken to further define this group. A review of hospital records and radiographs over a 72-year period identified 149 limbs in 123 patients with features of fibular hemimelia syndrome. Sixteen limbs in fourteen patients had findings of fibular hemimelia with radiographically normal fibulae. Thirteen of 16 had absent lateral rays with either ball and socket ankle joint, tarsal coalition or both. Six of the 13 had limb shortening. Three limbs in three patients did not have absent lateral rays, but had at least two other features of fibular hemimelia syndrome. All of these three limbs had ball and socket ankles and tarsal coalitions and two had shortening. These patients represent a mild subset of fibular hemimelia syndrome and we propose that they be classified as type 0 fibular hemimelia.

The classification of phocomelia.

We studied 24 patients with 44 phocomelic upper limbs. Only 11 limbs could be grouped in the classification system of Frantz and O' Rahilly. The non-classifiable limbs were further studied and their characteristics identified. It is confirmed that phocomelia is not an intercalary defect.

Fibular hemimelia.

We report three cases with congenital longitudinal deficiency of fibula. Two cases were of Type IB and one was Type II.

Fibular hemimelia: a new classification system.

A new classification system for fibular hemimelia is proposed based on the authors' experience with 32 patients with 33 involved limbs representing a spectrum of involvement. The data demonstrate the broad and unpredictable relationships among the fibula, ankle, and foot in this disorder. The classification system, based on fibular and ankle morphology, hindfoot coalition, and foot ray deficits, is designed to improve communication about the condition. Because of the variability and unpredictability of the multiple relationships, limb salvage criteria should also include the nature of the foot and ankle and not merely depend on the length discrepancy or the presence or absence of the fibula.

Tibial hemimelia of a different class.

A variant of tibial hemimelia, previously undescribed in the literature and not classifiable by either of the established classification systems, is described. The features of this condition include a short, deformed tibia; proximal subluxation of the fibula at the knee; a normal knee joint and an ankle joint that may look abnormal but falls short of true diastasis of the joint. Treatment of two cases by differential lengthening of the tibia and fibula using the Ilizarov device is described. This form of tibial hemimelia should be recognised as a separate variant as preservation of the foot and ankle with expected excellent function should be possible, unlike the more severe forms of this condition.