Radial Longitudinal Deficiency: Recent Developments, Controversies, and an Evidence-Based Guide to Treatment.

Radial longitudinal deficiency (RLD) is the most common congenital longitudinal deficiency at birth and represents a wide spectrum of upper extremity anomalies, from mild thumb hypoplasia to absent radius. Radial dysplasia may be isolated or associated with an array of systemic anomalies that should be familiar to pediatric hand surgeons. The management of RLD has evolved greatly since its inception in the late 19th century, largely due to decades of innovation that followed the thalidomide catastrophe of the 1960s. Yet controversy still exists regarding many aspects of RLD. Traditional treatments of radial dysplasia (ie, centralization) are unfortunately wrought with poor outcomes and high rates of recurrence, leading some authors to recommend alternative techniques for this condition. Reconstruction of the hypoplastic thumb, although less controversial, is just starting to see long-term outcomes. This article reviews the etiology, classification, and treatment options for RLD, highlighting recent developments and outcomes.

Molecular confirmation of nine cases of Cornelia de Lange syndrome diagnosed prenatally.

OBJECTIVES: Cornelia de Lange syndrome (CdLS) is characterized by distinct facial features, growth retardation, upper limb reduction defects, hirsutism, and intellectual disability. NIPBL mutations have been identified in approximately 60% of patients with CdLS diagnosed postnatally. Prenatal ultrasound findings include upper limb reduction defects, intrauterine growth restriction, and micrognathia. CdLS has also been associated with decreased PAPP-A and increased nuchal translucency (NT). We reviewed NIPBL sequence analysis results for 12 prenatal samples in our laboratory to determine the frequency of mutations in our cohort. METHODS: This retrospective study analyzed data from all 12 prenatal cases with suspected CdLS, which were received by The University of Chicago Genetic Services Laboratories. Diagnostic NIPBL sequencing was performed for all samples. Clinical information was collected from referring physicians. RESULTS: NIPBL mutations were identified in 9 out of the 12 cases prenatally (75%). Amongst the NIPBL mutation-positive cases with clinical information available, the most common findings were upper limb malformations and micrognathia. Five patients had NT measurements in the first trimester, of which four were noted to be increased. CONCLUSION: We demonstrate that prenatally-detected phenotypes of CdLS, particularly severe micrognathia and bilateral upper limb defects, are associated with an increased frequency of NIPBL mutations.

Contiguous gene deletion of TBX5 and TBX3 leads to a varible phenotype with combined features of Holt-Oram and ulnar-mammary syndromes.

We report on a combination of congenital malformations in a mother and her fetus harboring a heterozygous deletion encompassing the TBX5 and TBX3 genes, which are disease-causing in Holt-Oram and ulnar-mammary syndromes, respectively. This contiguous gene syndrome is reminiscent of Okihiro syndrome and emphasizes the importance of array-CGH as a diagnostic tool in atypical syndromic presentations with intrafamilial variability.

Disruption of the radial/ulnar axis:congenital longitudinal deficiencies.

Radial, ulnar, and central deficiencies represent a spectrum of abnormalities in the development of the upper limb. Radial longitudinal deficiency is often associated with abnormalities in other organ systems, such as cardiac and renal, and so requires a comprehensive medical evaluation. On the other hand, ulnar longitudinal deficiency tends to be associated only with other musculoskeletal abnormalities. In all of these conditions, there is a high incidence of ipsilateral thumb abnormalities. Given the importance of the thumb in overall hand function, abnormalities of the thumb often guide treatment for these conditions. Surgical treatment of the wrist and forearm in radial longitudinal deficiency is controversial, as will be outlined in this review.

Upper limb function and deformity in cerebral palsy: a review of classification systems.

AIM: To review classification systems for the upper limb in children with cerebral palsy (CP), and evaluate their validity, reliability, and clinical utility to make recommendations for clinical practice and future research. METHOD: We comprehensively searched electronic databases to identify upper limb classification tools and associated evidence of psychometric testing. Two independent reviewers assessed the quality of the psychometric studies, and rated the clinical utility of each system using previously published tools. RESULTS: Eighteen classification systems were eligible for inclusion, with two primary functions: classification of function or deformity. Published evidence of psychometric testing was available for fewer than half of the identified systems. Reliability studies were frequently limited by sample size, rater blinding, representativeness, and the number of observers. The Manual Ability Classification System (MACS) demonstrated content validity and interrater reliability. The original and modified House functional, House thumb, swan-neck, and Zancolli systems had evidence of reliability; the modified House functional system also demonstrated criterion-related validity. INTERPRETATION: This review supports the use of the MACS and modified House functional system to classify upper limb function in children with CP. Similarly, the House thumb and Zancolli systems are recommended to classify thumb, and hand and wrist deformity respectively.

[Tendon transfers for the upper extremity in cerebral palsy]. / Spastik üst ekstremitede cerrahi tedavi: Tendon transferi uygulamalari.

Upper extremity deformities in cerebral palsy are caused by the imbalance between spastic and weak muscles acting on unstable joints. The basic goals of surgical treatment of spastic hands and upper extremities of patients with cerebral palsy can be summarized as reducing the strength of spastic muscles, strengthening the antagonist muscles, and permanent stabilization of unstable joints. Surgical techniques to achieve these goals include lengthening of spastic muscles, tendon transfers, release or plication of the joint capsule, joint arthrodesis, neurectomies, and skin procedures. Amongst these surgical treatment options, this article will present, in more detail, tendon transfers which are performed especially to achieve balance and restore motor functions.

Prenatal diagnosis of congenital upper limb differences: a current concept review.

Congenital upper limb differences are frequently associated with complex syndromes. Ultrasonography is considered as the first-line diagnostic modality, and fetal MRI can be useful to further evaluate ill-defined areas. Genetic and non-invasive prenatal testing help to identify the underlying genetic disorder. The diagnostic assessment is a multidisciplinary task that should involve early prenatal consultations with specialists involved in case management and treatment planning. Obstetricians, geneticists, radiologists, psychologists and dedicated surgeons are needed to provide good parental education, prenatal and postnatal care, and successful outcomes. The purpose of this review is to provide an overview of the clinicopathologic background, current diagnostic and imaging procedures in affected fetuses.

Clinical and cytogenetic findings in 14 patients with madelung anomaly.

Madelung deformity of the wrist is a congenital defect caused by a growth disturbance in the volar-ulnar distal radial physis leading to a typical appearance of the upper extremities. The majority of Madelung deformity case caused by hereditary dyschondrosteosis of the wrist. In a number of instances, the disease has a genetic etiology. This article reports the clinical and cytogenetic findings associated with Madelung deformity in 14 patients. Results indicate Madelung anomaly often is associated with additional clinical abnormalities, particularly delayed puberty and menstrual disorders, as well as sexual chromosome aberrations.

Upper and lower limb length equalization: diagnosis, limb lengthening and curtailment, epiphysiodesis.

INTRODUCTION: This article contains notions and guidelines derived from the current therapeutic approach used in the Pediatric Orthopedics Clinic of "M.S. Curie" Hospital, Bucharest. The purpose of this work is to illustrate the clinic's experience theoretically and by means of images. METHODS: This article is based on 25 years of clinical experience (1986-2011), gained at Mangalia Regional Hospital and the Pediatric Orthopedics Clinic of "M.S. Curie" Hospital in Bucharest, having treated more than 250 such cases. In post-traumatic shortenings with associated soft tissue injuries we used double leveled corticotomies and lengthening. The lengthening rarely exceeded 10 cm, especially for congenital deformities and repeated lengthening. From 2001 onwards, all lengthening operations included the intramedullary implantation of one or two TEN rods, with the purpose of reducing the time to fixator removal and to shrink the healing index. In the last five years we frequently used minimally invasive osteotomies after the placement of TEN implants, achieving the separation of a small fragment that sites itself between the major fragments. The lengthening rate was 1 mm per day, broken down in four steps (0.25 mm every 6 hours). For difficult cases, such as congenital pseudarthroses or the presence of scar tissue around the osteotomy site, we recommended 0.75 mm of lengthening per day (0.25 mm every 8 hours). For congenital pseudarthroses we used controlled epiphysiolysis and bone transport. For inequalities ranging 3 to 5 cm we used temporary epiphysiodesis, initially with staples, and subsequently with "8", "H" and "I" plates. Limb shortening followed by locked intramedullary fixation was reserved for those patients who did not follow through with the evaluation program and who could not benefit from temporary epiphysiodesis. RESULTS: The amount of lengthening per segment varied between 3 and 17 cm. The longest staged lengthening measured 20 cm, in two stages, and the greatest overall lengthening was 25 cm for an entire lower limb. An appropriate stabilization, followed by the adequate choice of osteotomy site and the postoperative weight loading of the limb ensured a quick and qualitative healing process. COMPLICATIONS: Less than half of the patients suffered complications, most of them being minor ones. Pseudarthroses have been treated by compaction of the site, followed by distraction, and/or the injection of BMP (Bone Morphogenic Protein). We saw no complications after epiphysiodesis or limb shortening. CONCLUSIONS: Limb lengthening procedures up to 5 cm lead to rapid consolidation and minimal complications. Lengthenings exceeding 5 cm require a good psychological preparation and careful monitoring. In lengthenings more than 10 cm, a faster rate of consolidation requires a double corticotomy, the use of intramedullary fixation and the immobilization of adjacent joints. In Lobstein's disease, good results can be obtained by the use of an Ilizarov external fixator. Restoring limb length equality by temporary epiphysiodesis, around the age of 10-12, is the least aggressive method and is very effective. Limb shortening by segmental resection should become obsolete.

Síndrome de Poland. A propósito de un caso y revisión de la literatura / Poland syndrome. Case report and review of the literature

El síndrome de Poland es una deformidad congénita poco frecuente, esporádica y de patogenia incierta. Se caracteriza por ausencia/hipoplasia del pectoral mayor, alteraciones de la mano y de la glándula mamaria ipsolateral. Se presenta un caso de un varón con clínica sugestiva de síndrome de Poland en el hemitórax izquierdo, sin alteración de la extremidad superior, aunque asociaba dextrocardia y herniación pulmonar, una relación poco frecuente. Se hace hincapié en la necesidad de contar con un equipo multidisciplinario para su manejo inicial y tratamiento a largo plazo (AU)

The Poland syndrome is a rare, sporadic and congenital deformity with uncertain pathogenesis. It is characterized by absence or hypoplasia of the pectoralis major muscle, malformations of the hand and involvement of the ipsilateral mammary gland. A case of a newborn with clinical manifestations suggestive of Poland syndrome on the left hemithorax, associated dextrocardia and defect pulmonary despite being a rare association. Emphasis on the need for a multidisciplinary team in the initial management and long-term treatment (AU)

Transverse limb reduction and intrauterine device: case report and review of the literature.

BACKGROUND: Pregnancies with an intrauterine device (IUD) in situ are associated with increased maternal and foetal morbidity and mortality. No proven teratogenetic effects have been attributed to IUDs. CASE: A 29-year-old-woman conceived with an IUD in place. The device was removed at 7 weeks' gestation. Her level 2 sonogram at 25 weeks' gestation revealed transverse limb reduction of the foetal right forearm. She gave birth at term to a female infant with reduction of the right forearm. The rest of the physical examination, imaging and laboratory tests, including serology and karyotype were normal. CONCLUSION: We present a rare case of transverse limb reduction defect associated with the presence of an IUD at the time of conception. The device had been removed in the first trimester of the pregnancy. Data from the literature are reviewed.

Radius lengthening for the treatment of Bayne and Klug type II and type III radial longitudinal deficiency.

PURPOSE: We performed radius lengthening to treat radial deviation of the wrist in patients with Bayne and Klug type II and type III radial longitudinal deficiencies. The purpose of this investigation was to review our results of radius lengthening for radial longitudinal deficiency. METHODS: Beginning in 1991 radius lengthening was performed to treat 4 patients with radial longitudinal deficiency whose mean age at the initial lengthening was 16 months. The corrections for radial deviation of the wrists were performed simultaneously by soft-tissue distraction of the wrist. According to Bayne and Klug's classification 2 patients had type II and 2 patients had type III deficiencies. All but 1 patient had lengthening several times to correct the recurring discrepancy between the radius and the ulna. RESULTS: The corrections were achieved just after the lengthening but deformities recurred because of growth discrepancies between the radius and the ulna as the children grew. The radius was lengthened by a mean of 28 mm, with a mean length gain of 79%. The mean period in the fixator was 136 days. Two patients had both functionally and cosmetically acceptable correction after several lengthening procedures. In the other patient we abandoned this treatment method because of severe bone absorption at the distal end of the lengthened radius. One patient died of cardiac disease after one lengthening. CONCLUSIONS: Radius lengthening for Bayne and Klug type II and type III deficiencies may be accomplished successfully with the primary benefit of maintaining wrist and forearm motion. It is likely that at least 3 lengthenings may be required and this may need to be accompanied by a soft-tissue distraction at the ulnar carpal joint as well. TYPE OF STUDY/LEVEL OF EVIDENCE: Therapeutic, Level IV.