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.

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.

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.

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.

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.

Patterns in multimalformed babies and the question of the relationship between sirenomelia and VACTERL.

Starting from a data base of over one million births investigated in 11 countries as a part of the Latin American Study of Congenital Malformations, 1,428 babies with three or more malformations without known pathogenesis or cause were studied. The objective was to search for statistically significant associations between defects and the delineation of new syndromes. One hundred and twenty-one patients presented an association between malformations of the digestive and urogenital systems involving mainly anal, renal, and genital anomalies, while 21 of them had 3 or more VACTERL defects. The frequencies of these defects were intermediate between those observed for VACTERL or sirenomelia, supporting the idea that these conditions have a similar pathogenesis. Statistical approaches like this one may be helpful in identifying processes and biological entities that may be missed using simple clinical observations.

Neural crest defects. A neuroanatomic basis for classification of multiple malformations related to phocomelia.

Skeletal and internal structures are shown to be linked anatomically through segmental levels of innervation, or "neurotomes", and are related embryologically to the neural crest. Congenital abnormalities within the same or adjacent neurotomes would explain the distribution of defects in thalidomide embryopathy and morphologically similar multiple malformation syndromes. Classification of these "neural crest defects" on the basis of the segmental nerve supply is suggested.

Genetic counseling in limb reduction defects.

During several years experience in a multidisciplinary out-patient clinic for children with congenital hand malformations a systematic approach was devised to arrive at an accurate diagnosis and recurrence risk in patients with congenital limb reduction defects. Classification and diagnostic work-up was done according to a protocol, derived from data in the literature and from our own experience. This protocol is described for the different types of congenital upper limb reduction defects.

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.

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.

Fibular hemimelia.

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

Proximal femoral focal deficiency.

Proximal femoral focal deficiency (PFFD) is an uncommon congenital defect that involves the femur and acetabulum in varying degrees. It may occur with or without fibular hemimelia and can be unilateral or bilateral in presentation. Children with PFFD and their families are faced with many treatment decisions, both nonsurgical and surgical. Nursing care is central in the care of these children and their families both for psychosocial support and teaching during the decision-making process and for being a patient advocate to help meet postoperative and rehabilitation goals.

[Morphology and systematic aspects of the longitudinal radial defect]. / Morphologie und Systematik des longitudinalen radialen Defektes.

The present study includes a total of 117 observations in 74 patients with longitudinal distal and combined radial defects. This is the largest patient population with radial deficiencies not due to thalidomide reported in the literature. The objective of the present paper is to appraise the principles and typical patterns in reduction as well as characteristic radiological morphology. A seasonally higher incidence of longitudinal radial deficiency can be observed. Overall, there is only a slight preponderance of female patients. The bilateral occurrence of the malformation is more frequent than its unilateral presentation. Complete radius aplasia is most frequent, followed by radius hypoplasia and partial radius aplasia. The malformation of the humerus parallels the radius defect severity. An isolated humerus malformation was not observed. In the hand, malformation of the radial carpal bones and first metacarpal is the most common, with malformations tending to decrease ulnarly. A teratological series of the longitudinal radial defect with typical reduction patterns is described. The regression advances from proximal to distal in the radial carpal column and ray, from distal to proximal in the radius and from proximal to distal in the humerus. The malformation progresses from distal to proximal in the upper limb as a whole.

[Sirenomelia. Review of nosology and a case report]. / La sirénomélie. Revue de la nosologie à propos d'un cas.

We report a case of sirenomelus observed at 21 weeks amenorrhoea with oligoamnios. This syndrome results from an anomaly during the fourth week of gestation perturbing development of the lower limbs and the pelvis. Normal differentiation of the sexual organs, urinary tract and terminal intestine is interrupted. Recent progress in embryopathology has led to identification of a caudal regression syndrome but the aetiology remains unknown as is the nature of the relationship with VATER association.

[Congenital defects of tibia and fibula]. / Congenitale defecten van tibia en fibula.

This study comprised 7 patients with longitudinal anomalies of the knee and leg classified in accordance with the 'classification of congenital limb deficiencies' introduced by Frantz and O'Rahilly. The anomalies were paraxial hemimelia of the fibula (4 instances), paraxial hemimelia of the tibia (6 instances). In the absence of the proximal tibia, therapy consisted of knee reconstruction according to Brown. In the absence of the distal part of the tibia a proximal tibiofibular synostosis was performed. In one instance corrective osteotomy of the tibia was required in the absence of the fibula. Exarticulation according to Syme was resorted in order to cope with an incorrigible abnormal position of the foot and for leg length inequality. The therapy should aim at giving the child walking ability at a normal time. Exarticulation has to be preferred to amputation in the treatment of these patients.

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.

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.

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.

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.