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PURPOSE: To evaluate the functional results after opponensplasty using an abductor pollicis brevis rerouting technique in type II and IIIA hypoplastic thumbs. METHODS: Eleven hypoplastic thumbs in nine children with type II and IIIA hypoplastic thumbs were treated with abductor pollicis brevis rerouting. The mean follow-up period was 70 months (range, 12-172 months). We assessed preoperative to postoperative changes in the angles of the first and second metacarpal axes and the longitudinal axis of the first metacarpal and proximal thumb phalanx as well as grip and pinch strengths. RESULTS: The mean angle of the first and second metacarpal axes showed a significant improvement to 64° (range, 47° to 89°), and the mean angle of the first metacarpal and proximal phalanx of the thumb showed a significant reduction to 8° (range, 1° to 21°) after surgery. The mean postoperative grip and pinch strengths were 77% (range, 63% to 106%) and 72.0% (range, 33% to 97%), respectively, relative to the unaffected side. CONCLUSIONS: Abductor pollicis brevis rerouting for type II and IIIA hypoplastic thumbs can produce joint stability and a strong pronation effect in addition to the opponens function. TYPE OF STUDY/LEVEL OF EVIDENCE: Therapeutic V.

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LEVEL OF EVIDENCE: III.

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BACKGROUND: We developed a 2-stage, MTP (metatarsophalangeal) joint- plus ADM (abductor digiti minimi) tendon-transfer, procedure for treatment of hypoplastic thumb. This method is intended to achieve both structural and functional goals of reconstruction. Structurally, it preserves a five-digit hand with minimal donor site complications. Functionally, it provides a functioning opposable thumb. CASE PRESENTATION: The case series included 7 patients with type IV hypoplastic thumb. At the first stage non-vascularized joint (not bone) was transplanted. In the second stage abductor digiti minimi tendon was transferred. Patients were followed for a median 5-yr period (range: 37-79 months). Functional outcome was assessed using a modified Percival assessment tool. Participants aged 17 to 36 months at the time of surgery with (2 male, 4 female). All patients were able to grasp large and small objects after the procedure. The thumb tip could actively move to touch the tips of index (2 patients) middle, ring, and little fingers (all patients) in an ulnar ward sequence and vice versa. All patients attained the ability to do lateral, palmar, and tripod pinch. As for donor site complications, none of the patients were found to have difficulty walking or keeping their balance. CONCLUSIONS: An alternative surgical procedure was developed to reconstruct a hypoplastic thumb. We obtained a good functional and cosmetic outcome with few donor site complications. Future studies will be needed to determine the long-term outcomes, to refine the selection criteria and to examine the necessity of additional procedure at the older ages.

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Pollicization has been a very successful procedure in the treatment of specific types of hypoplastic thumb. Although much has remained the same since early descriptions of the procedure in the 1800s and 1900s, refinements over the years have made it safer and more predictable. Over the years at our institution we have studied, modified and refined our incisions to produce a new thumb that is aesthetically pleasing with excellent function. We present our technique for pollicization along with pearls and pitfalls we have discovered.

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Isolated third toe-to-thumb transfers have been rarely reported and none in the pediatric population. We describe a third toe-to-thumb transfer for reconstruction of a congenital hypoplastic thumb with excellent functional results and no morbidity in the donor foot.

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Background: The Kapandji scale has 10 levels and includes abduction, rotation and flexion movements. Assessing children with thumb hypoplasia, this scale is poorly understood and confusing. The objective of the study is to evaluate an opposition scale simpler and understandable for children. Methods: It is a validation study of a simplified scale to qualify the opposition of the thumb, in order to asses only the abduction - rotation but not the flexion of the metacarpo-phalangeal (MP) or interphalangeal (IF) joint. The proposed classification goes from 0 to 3 degrees, where 0: No opposition, 1: The thumb touches the middle phalanx of the 2nd finger, 2: the thumb touches the pulp of the 2nd finger and 3: the thumb touches the pulp of the 5th finger. 10 patients with thumb hypoplasia were analyzed by 9 hand surgeons and 9 orthopedic surgeons. Results: The intraclass correlation coefficient shows a very good inter-observer reliability with a kappa of 0.991 (p = 0.000). When correlated by groups, the finding were very good between the hand surgeons group k = 0.980 (p = 0.000) and the orthopedic surgeons group 0.974 (p = 0.000). At 6 weeks a new evaluation was made, the intra-observer reliability was excellent k = 0.995 (p = 0.000). Conclusions: The proposed scale for the evaluation of the abductionrotation of the thumb is validated and useful in the evaluation of the results of a thumb opposition transfer with a good inter-observer and intra-observer reliability between orthopedic and hand surgeons.

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PURPOSE: The abductor digiti minimi (ADM) and flexor digiti minimi (FDM) muscles have a similar vascular and nerve supply. The purpose of this study was to assess the feasibility of transferring the FDM instead of ADM for thumb opposition. METHODS: Thirty cadaver hands were dissected under loupe magnification to assess the presence of the ADM and FDM muscles as well as their blood and nerve supply. The length of these muscles and their location in relation to the radial aspect of the thumb metacarpophalangeal joint were assessed. RESULTS: The ADM muscle was present in all cadavers whereas the FDM muscle was absent in 33% of hands. When the dimensions were suitable (53%), the more radially located FDM muscle reached the thumb metacarpophalangeal joint more easily. CONCLUSIONS: Although the dissections revealed considerable variability in FDM anatomy, when present, it can have positional advantage over the ADM for opponensplasty. CLINICAL RELEVANCE: In some cases with radial longitudinal deficiency, preservation of ADM function is essential. In these children, the FDM can potentially be explored and transferred if it is found to be suitable.

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OBJECTIVE: Juberg-Hayward syndrome (JHS; MIM 216100) is a rare autosomal recessive malformation syndrome, characterized by cleft lip/palate, microcephaly, ptosis, hypoplasia or aplasia of thumbs, short stature, dislocation of radial head, and fusion of humerus and radius leading to elbow restriction. A homozygous mutation in ESCO2 has recently been reported to cause Juberg-Hayward syndrome. Our objective was to investigate the molecular etiology of Juberg-Hayward syndrome in two affected Lisu tribe brothers. MATERIALS AND METHODS: Two patients, the unaffected parents, and two unaffected siblings were studied. Clinical and radiographic examination, whole exome sequencing, Sanger sequencing, Western blot analysis, and chromosome testing were performed. RESULTS: Two affected brothers had characteristic features of Juberg-Hayward syndrome, except for the absence of microcephaly. The elder brother had bilateral cleft lip and palate, short stature, humeroradial synostosis, and simple partial seizure with secondary generalization. The younger brother had unilateral cleft lip and palate, short stature, and dislocation of radial heads. The homozygous (c.1654C > T; p.Arg552Ter) mutation in ESCO2 was identified in both patients. The other unaffected members of the family were heterozygous for the mutation. The presence of humeroradial synostosis and radial head dislocation in the same family is consistent with both being in the same spectrum of forearm malformations. Chromosome testing of the affected patients showed premature centromere separation. Western blot analysis showed reduced amount of truncated protein. CONCLUSION: Our findings confirm that a homozygous mutation in ESCO2 is the underlying cause of Juberg-Hayward syndrome. Microcephaly does not appear to be a consistent feature of the syndrome.

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We treated 16 patients with 17 hypoplastic thumbs (eight Type IIIB and nine Type IV) using a non-vascularized fourth metatarsal transfer with a rotational flap and multi-staged reconstruction. The average age at the first operation was 24 months. The average follow-up time was 46 months. All patients achieved reasonable hand function and were able to use the reconstructed thumb to grip small and large objects. The operated thumb achieved an average Kapandji score of 6.7 and average pinch strength of 0.9 kg. There were two cases of graft nonunion. All parents are satisfied with the function and appearance of the reconstructed thumb and donor foot. We conclude that non-vascularized fourth metatarsal transfer is a feasible reconstruction method for patients with Types IIIB and IV hypoplastic thumbs. The reconstruction allows for the preservation of a 5-digit hand with reasonable function and appearance and minimal donor site morbidity, although long-term growth of the metatarsals still need to be monitored.Level of evidence: IV.

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Anomalies of the thumb development are not uncommon and may be associated with a number of syndromes also. These anomalies range from total absence to duplication. Reconstructive surgery for the creation of an opposable thumb is the most rewarding aspect of Hand Surgery and also the most challenging. Classification systems have been modified for better description. A number of procedures have been introduced to improve the functionality of the hand in anomalies and age old concepts are undergoing a metamorphosis to further this. A brief description of the common conditions and their treatment are discussed here and highlighted by selected clinical cases.

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Congenital malformations of the thumb greatly affect the performance of the hand and the upper limb. The conditions associated with atrophic thumb represent a wide spectrum of abnormalities, ranging from a complete absence to a mere small size of the thumb. A 5-year-old Caucasian female presented with congenital clasped thumb deformity with hypoplastic thumb and with an absence of extrinsic extensors extensor pollicis longus and brevis and with stable carpometacarpal joint. We managed this case by transferring the extensor indicis proprius tendon and flexor digitorum superficialis of digitus medicinalis (the ring finger)-which is not common-to compensate for the absence of extension and abduction tendons of the thumb. After 17 years, the result was satisfactory for the patient and her family. She was able to use her hand for writing and doing normal daily work without feeling any disability.

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PURPOSE: The purpose of this study was to identify the variety of anatomical abnormalities of extrinsic tendons in type IIIA hypoplastic thumbs. METHODS: We reviewed 79 thumbs in 67 patients. Opponensplasty, stabilizing of the thumb metacarpophalangeal joint, and widening of the first web space were performed in all patients. At the time of surgery, we made detailed observations of the anatomical abnormalities of the extrinsic tendons of the thumb. RESULTS: Fifty thumbs (50 of 79; 63%) had an interconnection between the flexor pollicis longus (FPL) and the extensor pollicis longus (EPL) tendons. Twenty-six thumbs (26 of 79; 33%) had bifurcations (25 [32%] bifurcated from the FPL; 1 [1%] bifurcated from the EPL). There were 25 FPL abnormalities (4 [5%] complete absence; 8 [10%] proximal absence; 2 [3%] distal absence; 11 [14%] tendon hypoplasia) and 7 EPL abnormalities (2 [3%] proximal absence; 5 [6%] tendon hypoplasia). CONCLUSIONS: Interconnections between the FPL and the EPL tendons and a duplicated FPL were observed frequently. CLINICAL RELEVANCE: The present study investigates the detailed anatomy of the type IIIA hypoplastic thumbs. The data might help improve the design of surgical procedures.

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PURPOSE: Radial longitudinal deficiency (RLD) presents on a spectrum of severity and associated diagnoses. The literature is limited in describing patient presentation without comparative data between countries. In a study comparing 2 cohorts of patients, 1 in the United States and 1 in Japan, we hypothesized that there would be a similar presentation of forearm deficiency severity, thumb hypoplasia severity, and associated syndromes between the 2 cohorts. METHODS: Patients with RLD were identified via a comprehensive chart review at 2 pediatric hospital cohorts, 1 in the United States and 1 in Japan, capturing patients presenting over 15 years. We assessed RLD and thumb hypoplasia severity via a modified Bayne and Klug and modified Blauth classifications. The relationship between these 2 diagnoses and the presence of common medical conditions were evaluated and correlated. RESULTS: A total of 194 Japanese patients with 290 involved extremities were compared with 107 U.S. patients with 174 involved extremities. The U.S. cohort had a significantly more severe RLD, and a higher rate of bilaterality (63% vs 50%, respectively). A total of 131 Japanese patients (68%) and 41 U.S. patients (38%) had associated medical syndromes/associations, most frequently vertebral abnormalities, anal atresia, cardiac abnormalities, tracheoesophageal fistula and/or esophageal atresia, renal agenesis and dysplasia, and limb defects (VACTERL; 46 Japanese, 14 U.S.), Holt-Oram (44 Japanese, 5 U.S.), and thrombocytopenia absent radius syndrome (0 Japanese, 12 U.S.). Correlation analysis showed that increased RLD severity was associated with increased thumb hypoplasia severity in both groups, with 95% of modified Bayne and Klug III, IV, or V patients having severely affected thumbs (type IIIb, IV, or V). CONCLUSIONS: The U.S. patients had a more severe RLD and a higher rate of bilaterality. Japanese patients had a higher incidence of associated syndromes and radial polydactyly. Both cohorts showed that increased forearm severity was associated with more severe thumb hypoplasia. TYPE OF STUDY/LEVEL OF EVIDENCE: Differential diagnosis/symptom prevalence study III.

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Thumb hypoplasia, a congenital deficiency of bony and soft tissue of thumb, is often associated with systemic syndromes like Holt-Oram syndrome, and is the second most common thumb anomaly after duplicated thumb. It has traditionally been classified into six categories, which help guide treatment including reconstruction versus pollicization (transfer of the index finger to thumb). Amputation of the thumb and pollicization is the traditional treatment for a IIIB hypoplastic thumb. A five-year-old girl presented with a classic type IIIB hypoplastic thumb in which she has absent motor function, aplasia of the metacarpal, shortened first web space, and an unstable but present carpometacarpal (CMC) joint. Instead of amputation, the thumb was reconstructed by capsulodesis to stabilize the CMC joint, Huber Transfer Opponensplasty and abductor pollicis longus transfer to restore motor function, W-plasty to deepen the first web space, and distraction to lengthen the metacarpal. The patient tolerated the multi-stage reconstruction and bony distraction well. She was followed for one year postoperatively and has demonstrated a functional thumb. This case questions the surgical algorithm for hypoplastic thumbs and suggests a revised classification system for hypoplastic thumbs which would further divide class III based on not only the stability of the CMC joint but the presence or absence of the joint as well. We propose that amputation be reserved for type III hypoplastic thumbs in which the CMC joint is absent, (revised class IIIC) and reconstruction be attempted when the joint is present irrespective of stability (revised classes IIIA and IIIB).

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The reconstruction of a congenital hypoplastic thumb usually involves release of a tight first web space, metacarpophalangeal joint stabilization, reconstruction of intrinsic muscle function, and extrinsic tendon reconstruction, as appropriate. Numerous surgical options and combinations are available, but the approaches vary among surgeons who work in the field of congenital hand surgery and the empirical evidence that allows for evaluation of the results of techniques is scarce. Both the pre-operative assessment and intra-operative findings of all thumb elements - bone, joints, and soft tissues - should be considered in the surgical decision-making and eventually define the methods of reconstruction. This article summarizes the different reconstructive options.

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BACKGROUND: Quick genetic diagnosis of a patient with congenital heart disease (CHD) is quite important for proper health care and management. Copy number variations (CNV), chromosomal imbalances and rearrangements have been frequently associated with CHD. Previously, due to limitations of microscope based standard karyotyping techniques copious CNVs and submicroscopic imbalances could not be detected in numerous CHD patients. The aim of our study is to identify cytogenetic abnormalities among the selected CHD cases (n = 17) of the cohort using high density oligo arrays. RESULTS: Our screening study indicated that six patients (~35%) have various cytogenetic abnormalities. Among the patients, only patient 2 had a duplication whereas the rest carried various deletions. The patients 1, 4 and 6 have only single large deletions throughout their genome; a 3.2 Mb deletion on chromosome 7, a 3.35 Mb deletion on chromosome 3, and a 2.78 Mb a deletion on chromosome 2, respectively. Patients 3 and 5 have two deletions on different chromosomes. Patient 3 has deletions on chromosome 2 (2q24.1; 249 kb) and 16 (16q22.2; 1.8 Mb). Patient 4 has a 3.35 Mb an interstitial deletion on chromosome 3 (3q13.2q13.31).Based on our search on the latest available literature, our study is the first inclusive array CGH evaluation on Saudi cohort of CHD patients. CONCLUSIONS: This study emphasizes the importance of the arrays in genetic diagnosis of CHD. Based on our results the high resolution arrays should be utilized as first-tier diagnostic tool in clinical care as suggested before by others. Moreover, previously evaluated negative CHD cases (based on standard karyotyping methods) should be re-examined by microarray based cytogenetic methods.

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PURPOSE: This study was conducted to report the functional outcomes of the Huber opposition transfer (abductor digiti minimi muscle) in types II and IIIA hypoplastic thumbs. METHODS: Patients who had undergone a Huber opposition transfer with at least 5 years of follow-up were included in this study. There were 21 thumbs included; 12 returned for a detailed evaluation and 9 were included with a medical record review. Outcome measures included range of motion and pinch strength; Pediatric Outcomes Data Collection Instrument (PODCI) and Patient-Reported Outcomes Measurement Information System (PROMIS) scores were collected on those who could return. There were 15 type II and 6 type IIIA thumbs. RESULTS: Range of motion was significantly less than normal for both the interphalangeal and the metacarpophalangeal joints. For the returning cohort, key and tripod pinch were 44% and 65% of normal. The median Kapandji score was 9 (range, 6-10). The PODCI scores were high for global, upper extremity function, happiness, and pain. The PROMIS scores were similar to normal, except for parent reports of physical function. For all included patients, there was a revision surgery rate of 22%, primarily related to persistent instability. CONCLUSIONS: At a minimum 5-year follow-up, the Huber opposition transfer for types II and IIIA thumbs was shown to provide good subjective outcomes, despite limited range of motion and strength. TYPE OF STUDY/LEVEL OF EVIDENCE: Therapeutic IV.

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Thumb hypoplasia is a component of radial longitudinal deficiency. The severity of hypoplasia can range from a slightly smaller thumb to a complete absence. Types II and IIIA hypoplastic thumbs are candidates for reconstruction to improve function, stability, and strength. There are 2 commonly used tendon transfers that can augment thumb opposition strength: the Huber abductor digiti minimi muscle transfer and the flexor digitorum superficialis opposition transfer. Both transfers use ulnar-sided structures to augment the thenar musculature. The Huber opposition transfer increases thenar bulk, but does not provide additional tissue for metacarpophalangeal stability.

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UNLABELLED: This study reports on outcomes of the flexor digitorum superficialis tendon transfer from the ring finger in Type II and IIIA hypoplastic thumbs. We included 22 patients with 27 involved hands: 16 Type II thumbs and five Type IIIA treated by transfer and six non-operated Type II thumbs. The outcomes were assessed by range of motion, strength, sensibility, joint stability and patient/parent satisfaction. Compared with normative data, the range of motion was diminished in all patient groups. Opposition strength in operated Type II thumbs was significantly better than in non-operated thumbs. Grip strength, pinch strength, tripod strength and key pinch strength were approximately 50% of normal in Type II thumbs and 35% in Type IIIA thumbs. Metacarpophalangeal joint stability was restored in all operated Type II thumbs and in 40% of Type IIIA thumbs. We conclude that the flexor digitorum superficialis tendon transfer of the ring finger is a good functioning opponensplasty in both Type II and IIIA thumbs. The transfer provides excellent stability of the metacarpophalangeal joint in Type II thumbs. LEVEL OF EVIDENCE: Level IV.

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INTRODUCTION: An internal abdominal herniation is the protrusion of a viscus through a normal or abnormal mesenteric or peritoneal aperture. It is a rare cause of small bowel obstruction with a reported incidence of 0.2-0.9%. It can either be acquired through a trauma or surgical procedure or can be related to congenital peritoneal defects. Herniation through transverse mesocolon is very rare. PRESENTATION OF CASE: A case of acute intestinal obstruction due to internal herniation through a congenital rent in transverse mesocolon with rotation of gut approximately 180° around axis of the band. Patient also had bilateral hypoplastic thenar muscles with rudimentary 1st metacarpals and high arched feet. Reduction along with derotation of gut, with closure of the rent in transverse mesocolon and fixation of the caecum to lateral peritoneum was performed. DISCUSSION: The preoperative diagnosis of mesenteric defect is difficult because of wide range of acute abdominal symptoms, and there are no specific radiographic findings. CT is the most important diagnostic tool is, with 77% accuracy in such cases. Due to the risk of strangulation of the hernial contents, even small internal hernias are dangerous and may be lethal. CONCLUSION: Internal hernia should be suspected in patients with signs and symptoms of intestinal obstruction, particularly in the absence of inflammatory intestinal diseases, external hernia or previous laparotomy. Surgical decision-making is on the basis of clinical findings of intestinal strangulation or ischemia, and emergency laparotomy should be performed without preoperative diagnosis of such a rare disease.