Assessment of hand function using the functional dexterity test after opponensplasty in young children with Blauth type 2 hypoplastic thumb.

The functional dexterity test (FDT) is a timed pegboard test based on the manipulation of each peg and suitable for young children as it is both simple and quick to perform. We assessed the postoperative FDT values for children with Blauth type 2 hypoplastic thumbs after opponensplasty. We evaluated hand function using FDT for 12 hands of 11 patients with Blauth type 2 hypoplastic thumbs. Opponensplasty was performed in all hands following by Huber's procedure. All patients were evaluated from 6 to 12 months after surgery for hand function using three types of FDT scores: time in seconds to complete the test (FDT time), combined total time with penalty seconds added to the initial time (FDT total), and the number of pegs per second to complete the task as a percentage against normative values (FDT speed). We compared the postoperative FDT scores with those for Blauth type 1 or 2 hypoplastic thumb patients without surgical treatment. FDT time and FDT total for the patients postoperatively were both significantly shorter than those in the type 2 patients without surgical treatment. FDT speed was significantly higher than that for the patients without surgical treatment. There were no significant differences in the three FDT scores between the postoperative patients and the type 1 patients. There were several limitations including small sample size, large ranges of the data, and high number of variables. FDT reflected postopponensplasty improvement in hand dexterity in young children with Blauth type 2 hypoplastic thumb.

Congenital Great Toe Hypoplasia Equivalent to a Grade 3 Hypoplastic Thumb in a Patient with VACTERL Association.

Lower limb malformations in VACTERL patients are extremely rare and the most common anomalies are found in the tibial ray. We present the case of a 15 month old male with VACTERL and, additionally, a hypoplastic hallucal ray of the right foot in conjunction with a floating preaxial polydactyly. The great toe hypoplasia is similar to a grade 3b thumb hypoplasia with absence of the proximal two-thirds of the first metatarsal on the plain X-ray. We would like to draw the attention of hand surgeons to anomalies of the tibial ray, which, although rare, are the most common pattern of lower limb malformations in VACTERL association. All patients with VACTERL defects should be assessed for these additional findings.

Sports Injury-Related Fingers and Thumb Deformity Due to Tendon or Ligament Rupture.

BACKGROUND: Hand injuries are very common in sports, such as skiing and ball sports. One of the major reasons causing hand and finger deformity is due to ligament and tendon injury. The aim of this study was to investigate if the high-resolution 3T magnetic resonance imaging (MRI) can demonstrate the complex anatomy of the fingers and thumb, especially the tendons and ligaments, and provide the accurate diagnosis of clinically important fingers and thumbs deformity due to ligamentous and tendinous injuries during sport activities. METHODS: Sixteen fresh un-embalmed cadaveric hands were harvested from eight cadavers. A total of 20 healthy volunteers' hands and 44 patients with fingers or thumb deformity due to sports-related injuries were included in this study. All subjects had MR examination with T1-weighted images and proton density-weighted imaging with fat suppression (PD FS) in axial, coronal, and sagittal plane, respectively. Subsequently, all 16 cadaveric hands were sliced into 2-mm thick slab with a band saw (six in coronal plane, six in sagittal plane, and four in axial plane). The correlation of anatomic sections and the MRI characteristics of tendons of fingers and the ulnar collateral ligament (UCL) at the metacarpal phalangeal joint (MCPJ) of thumb between 20 healthy volunteers and 44 patients (confirmed by surgery) were analyzed. RESULTS: The normal ligaments and tendons in 16 cadaveric hands and 20 volunteers' hands showed uniform low-signal intensity on all the sequences of the MRI. Among 44 patients with tendinous and ligamentous injuries in the fingers or thumb, 12 cases with UCL injury at MCPJ of the thumb (Stener lesion = 8 and non-Stener lesion = 4), 6 cases with the central slip injury, 12 cases with terminal tendon injury, and 14 cases with flexor digitorum profundus injury. The ligaments and tendons disruption manifested as increased signal intensity and poor definition, discontinuity, and heterogeneous signal intensity of the involved ligaments and tendons. CONCLUSIONS: Sports injury-related fingers and thumb deformity are relatively common. MRI is an accurate method for evaluation of the anatomy and pathologic conditions of the fingers and thumb. It is a useful tool for accurate diagnosis of the sports-related ligaments and tendons injuries in hand.

Analysis of surgical results and of residual postoperative deformities in preaxial polydactyly of the hand.

PURPOSE: Polydactyly is the most common congenital anomaly of the hand. It may occur as a separate event or as part of a syndrome, with preaxial polydactyly of the hand (or thumb duplication) being the most common among Caucasians. The present study analyzed the surgical results and the residual postoperative deformities of patients with thumb duplication. METHODS: Thirty-one patients with duplicated thumbs were surgically treated from January 2002 to April 2008 and 19 of them, who had returned during the late postoperative period, were evaluated. Each case was typed according to Wassel's classification into seven types and the most common category was type IV. Removal of radial component was done in 18 patients aged on average 51 months. RESULTS: Patients and parents were satisfied with both the functional results and the appearance of the reconstructed thumb. In the subjective evaluation of residual deformities, axis deviation and residual prominence were commonly found. There were coherencies in data between both subjective and objective outcomes. The children that had difficulty in holding very small objects in the subjective functional result were the same children with residual deformities in the objective result. Patient's age at surgery and Wassel's type influenced the analysis of residual postoperative deformities. There was statistically significant difference in cases of type VII and in patients operated at more than three years of age. Correlation between type VII and patient's age at time of surgery was found. The children with type VII duplication were operated later. CONCLUSIONS: For a better result, surgical correction should be performed before three years of age, thus correcting all the changes detected, mainly in type VII, in order to reduce the incidence of residual deformity. TYPE OF STUDY/LEVEL OF EVIDENCE: Therapeutic IV.

Síndrome de Klippel-Feil con fistula traqueoesofagica, pulgar bifido y angiolipoma cerebral / Klippel-Feil syndrome with tracheoesophageal fistula, bifid thumb and cerebral angiolipoma

El síndrome de Klippel-Feil es una malformación congénita de la charnela cráneo-cervical compleja que involucra vértebras y visceras, caracterizada por la tríada clásica de cuello corto, limitación de movimientos de la cabeza por la fusión de vértebras cervicales e implantación baja del cabello en la región occipital. Se presenta por falla de segmentación en el esqueleto axial del embrión. Su incidencia se estima en 1/40 000-42 000nacimientos y predomina en el sexo femenino. El objetivo del presente trabajo es describir el cuadro clínico de un paciente con síndrome de Klippel-Feil y múltiples malformaciones asociadas, entre ellas, fístula traqueoesofágica, pulgar bífido y lipomas/angiolipomas intracraneales, las cuales, hasta ahora, no han sido descritas en el síndrome, por lo que se considera un hallazgo excepcional.

The Klippel-Feil syndrome is a congenital malformation of the skull flap involving complex cervical vertebrae and organs, characterized by a classic triad: short neck, limitation of movement of the head due to cervical spine fusion and low hairline in occipital region. It results from an error in the axial skeleton segmentation of the embryo; its incidence is estimated at 1/40,000-42,000 births and predominates in females. The aim of this paper is to describe the clinical picture of a patient with Klippel-Feil syndrome and multiple malformations, including tracheoesophageal fistula, bifid thumb and intracranial lipomas/angiolipomas,that have not been previously described in the syndrome, so it is considered an exceptional finding.

[Klippel-Feil syndrome with tracheoesophageal fistula, bifid thumb and cerebral angiolipoma.] / Síndrome de Klippel-Feil con fístula traqueoesofágica, pulgar bífido y angiolipoma cerebral.

The Klippel-Feil syndrome is a congenital malformation of the skull flap involving complex cervical vertebrae and organs, characterized by a classic triad: short neck, limitation of movement of the head due to cervical spine fusion and low hairline in occipital region. It results from an error in the axial skeleton segmentation of the embryo; its incidence is estimated at 1/40,000-42,000 births and predominates in females. The aim of this paper is to describe the clinical picture of a patient with Klippel-Feil syndrome and multiple malformations, including tracheoesophageal fistula, bifid thumb and intracranial lipomas/angiolipomas,that have not been previously described in the syndrome, so it is considered an exceptional finding.

El síndrome de Klippel-Feil es una malformación congénita de la charnela cráneo-cervical compleja que involucra vértebras y vísceras, caracterizada por la tríada clásica de cuello corto, limitación de movimientos de la cabeza por la fusión de vértebras cervicales e implantación baja del cabello en la región occipital. Se presenta por falla de segmentación en el esqueleto axial del embrión. Su incidencia se estima en 1/40 000-42 000 nacimientos y predomina en el sexo femenino. El objetivo del presente trabajo es describir el cuadro clínico de un paciente con síndrome de Klippel-Feil y múltiples malformaciones asociadas, entre ellas, fístula traqueoesofágica, pulgar bífido y lipomas/angiolipomas intracraneales, las cuales, hasta ahora, no han sido descritas en el síndrome, por lo que se considera un hallazgo excepcional.

Common Pediatric Congenital Conditions of the Hand.

LEARNING OBJECTIVES: After reading this article, the participant should be able to: 1. Accurately diagnose congenital differences that affect the hand. 2. Develop a surgical plan for syndactyly with regard to timing of intervention to prevent progressive deformity and principles to restore the commissure. 3. List the potential complications following polydactyly reconstruction. 4. State the indications for pollicization for thumb hypoplasia. SUMMARY: Congenital conditions of the hand are commonly encountered in a pediatric hand surgery practice. The physician must be comfortable and have a sound understanding of the diagnosis and treatment algorithm. Certain diagnoses are inheritable and require genetic testing and/or genetic counseling. Appropriate referral is necessary to facilitate education about the congenital difference and its effect on subsequent generations. Syndactyly, polydactyly, thumb hypoplasia, and cleft hand are particularly commonplace and are discussed in this article. The treatment principles and surgical techniques are emphasized to maximize hand function and aesthetic outcome.

Invasive macrodystrophia lipomatosa of the hand.

OBJECTIVE: The Authors point out the interest of differential diagnosis and conservative surgical treatment of a rare case of digital and ulnar side of the hand gigantism, with massive fatty infiltration of soft tissues and a neurovascular bundle, to be included into Macrodystrophia Lipomatosa with fibrolipomatous hamartomata. PATIENTS AND METHODS: Excision of the mass included 4th ray disarticulation (the fifth had been amputated several years ago) as well as microsurgical external and internal neurolysis of the ulnar nerve, the ulnar neurovascular bundle being exposed and covered with dermal substitute INTEGRATM, with a good result both from a cosmetic and functional point of view at three year follow up. RESULTS: This is the first report of INTEGRATM covering of a neurovascular bundle. Samples taken from the dermal substitute matrix interface at day 6 and day 25 were examined with transmission Electron Microscopy: a newly formed tissue, rich in precursor cells, was detected. CONCLUSIONS: Conservative surgery, requiring particular microsurgical skills and use of dermal templates, plays an outstanding role in treatment of these rare but aggressive soft tissues masses of the upper limb.

Lobster claw deformity.

Endogenous erythroid colony (EEC) syndrome comprise of three cardinal features, i.e. ectrodactyly, ectodermal dysplasia and cleft lip. EEC itself has three different forms. Ectrodactyly (absence of one or more digits) can be present with clefting in the proximal portion of hand or foot known as split hand foot malformation (SHFM) or lobster claw deformity. SHFM can be of four types depending upon the different responsible chromosomal loci. SHFM-4 can be present as pure limb malformation (non-syndromic form). In this article, describes a rare case report of lobster claw deformity patient.

Factors affecting surgical results of Wassel type IV thumb duplications.

The aim of this study is to review the outcomes of Wassel type IV thumb duplications with a minimum of one year follow-up, and to identify any factors that may compromise the quality of results. Forty one patients (42 thumbs) returned for assessment of thumb alignment, metacarpophalangeal joint and interphalangeal joint stability and motion; carpometacarpal joint motion; pinch and grip strengths; and thumb size. The subjective assessment considered thumb shape and contour, scarring, nail deformity and examiner and patient/parent satisfaction. The mean age at surgery was 16 months and the mean follow-up time was 79 months. Metacarpophalangeal joint and interphalangeal joint mal-alignment was present in 56% and 38% of cases, respectively. Interphalangeal ulnar collateral ligament laxity was significant. Metacarpophalangeal joint and interphalangeal joint motion was significantly decreased. Pinch and grip strength measurements were normal. A novel and comprehensive assessment scale is introduced, which revealed results of one (2.5%) excellent, 23 (59%) good, 14 (36%) fair and one (2.5%) poor. We consider that greater attention should be directed to the avoidance of mal-alignment and instability to improve these results.

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.

On the classification of congenital thumb hypoplasia.

In 1937, Müller introduced the concept of a teratological sequence of thumb hypoplasia with increasing severity from mild deficiency, through severe deficiency, to thumb absence. Blauth subsequently detailed five specific grades. In 1992, Manske and McCarroll altered Blauth's classification such that Grade 3 was sub-divided into Grades 3A and 3B, according to a presence or absence of the proximal metacarpal. Buck-Gramcko added a Grade 3C in which there was only a remnant metacarpal head. This article investigates their publications and those of others to identify 'who said what' and clarify the definitions of grades of thumb hypoplasia. A modification of Blauth's classification is proposed, which retains the integrity of the concept of Müller and the skeletal and soft tissue grading of Blauth, but which also incorporates the disparate anomalies that may present in Grades 2 and 3 hypoplastic thumbs.

Fascitis palmr asociada a leucemia mieloide crónica / Palmar fascitis associated with chronic myeloid leukemia

El síndrome de fascitis palmar con poliartritis (PFPAS) es un trastorno paraneoplásico infrecuente. Consiste en artritis generalizada de la mano, eritema, tumefacción, rigidez y engrosamiento de la fascia palmar con contracturas progresivas en flexión de los dedos, yse asocia a una enfermedad maligna subyacente. Presentamos el caso de una mujer de 75 años de edad que presentó placas induradas eritemato-violáceaspruriginosas y levemente dolorosas en ambas palmas, con tumefaccióny retracción en flexión de los dedos asociado a artralgias en ambas muñecas.El estudio de la médula ósea confirmó el diagnóstico de leucemia mieloide crónica...

47,XYY syndrome: clinical phenotype and timing of ascertainment.

OBJECTIVE: To describe auxologic, physical, and behavioral features in a large cohort of males with 47,XYY (XYY), ages newborn to young adult. STUDY DESIGN: This is a cross-sectional descriptive study of male subjects with XYY who were evaluated at 1 of 2 specialized academic sites. Subjects underwent a history, physical examination, laboratory testing, and cognitive/behavioral evaluation. RESULTS: In 90 males with XYY (mean age 9.6 ± 5.3 years [range 0.5-36.5]), mean height SD was above average (1.0 ± 1.2 SD). Macrocephaly (head circumference >2 SD) was noted in 28/84 (33%), hypotonia in 57/90 (63%), clinodactyly in 47/90 (52%), and hypertelorism in 53/90 (59%). There was testicular enlargement for age (>2 SD) in 41/82 (50%), but no increase in genital anomalies. No physical phenotypic differences were seen in boys diagnosed prenatally vs postnatally. Testosterone, luteinizing hormone, and follicle stimulating hormone levels were in the normal range in most boys. There was an increased incidence of asthma, seizures, tremor, and autistic spectrum disorder (ASD) compared with the general population rates. Prenatally diagnosed boys scored significantly better on cognitive testing and were less likely to be diagnosed with ASD (P < .01). CONCLUSIONS: The XYY phenotype commonly includes tall stature, macrocephaly, macroorchidism, hypotonia, hypertelorism, and tremor. Physical phenotypic features were similar in boys diagnosed prenatally vs postnatally. Prenatal diagnosis was associated with higher cognitive function and less likelihood of an ASD diagnosis.

Is hand bone mineral density a marker for hand function in patients with established rheumatoid arthritis? The correlation among bone mineral density of the hand, radiological findings and hand function.

The objective of this study is to assess the role of hand bone mineral density (BMD) as a prospective marker for hand function and the correlation of hand BMD with X-ray findings and hand functioning in patients with established rheumatoid arthritis (RA). Eighty-three female patients diagnosed with RA were enrolled. All BMD measurements were performed on both hands. The radiological evaluation was conducted according to the van der Heijde modification of the Sharp method (Sharp/van der Heijde). Duruöz Hand Index (DHI) was used to establish the disability in the hands. Furthermore, handgrip strength (HGS), pinch strength (PS), lateral pinch (LP), tip-to-tip pinch (TTP) and three-fingered pinch (TFP) on both the dominant and the non-dominant hands was measured. A significant positive correlation between hand BMD and HGS as well as all PSs with p < 0.05 was observed, while no statistically significant relation was observed between BMD and DHI (p > 0.05). The hand BMD and the Sharp/van der Heijde scores were significantly in reverse correlation (p < 0.05). As for other DHI-related variants, HGS and PS and the total DHI scores were reversely correlated, while there was a positive significant association with radiological scores (p < 0.05). HGS and TTP were found significant (p < 0.05) as a result of a multivariant linear stepwise regression analysis among the sub-groups of DHI, HGS, LP, TTP, TFP and radiographic total scores. Our study demonstrated that a one-off hand BMD measurement failed to adequately indicate a loss in hand function as measured by DHI. Ultimately, HGS and TTP were shown to be the most effective indicators for measuring hand functions.