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Summary:. We report a rare case of absent thumb IP joint flexion in bilateral thumbs due to anomalous tendon slips of the flexor pollicis longus. Cutting the anomalous insertions failed to improve active flexion of the IP joints. Successful treatment was achieved by evaluating the musculotendinous units of the original flexor pollicis longus and the anomalous flexor pollicis longus tendon during a wide-awake surgery.

Paediatric hand disorders are common. These can be classified into congenital or acquired and treatments vary from simple reassurance in cases such as clinodactyly to a major reconstruction in cases such as absent thumb or radial longitudinal deficiency. In this chapter, we provide an overview of the common paediatric hand problems and their treatments.

The Holt-Oram syndrome is an autosomal dominant disease, characterized by variable expression with complete penetrance of both cardiac and skeletal abnormality which may also associated with other anomalies. The incidence of this syndrome is estimated at 0.1:10000 births. Females are more commonly affected. We report a male newborn suspected to be a case of Holt- Oram syndrome which is exceptional due to an absence of familial context.

Purpose To investigate morphologic hand anomalies in children with severe but unclassifiable forms of thumb hypoplasia and radial-sided hand deficiency. Methods We identified 15 extremities in 13 patients with severe thumb hypoplasia and associated absent radial-sided digits through the Congenital Upper Limb Differences registry. All patients had forearm involvement. Medical records, clinical photographs, and radiographs were evaluated. Radial longitudinal deficiency (RLD) and thumb hypoplasia were classified according to the Bayne and Klug classification and modified Blauth classification, respectively. Unusual or defining associated hand characteristics were identified and categorized. Results The most common type of forearm abnormality was absence of the radius (Bayne and Klug type IV), which was present in 10 extremities in the cohort. All 15 extremities had absent thumbs with loss of additional digits. In 6 patients, RLD was part of a syndrome (46%). Conclusions Severe forms of thumb hypoplasia in RLD are uncommon. We propose a further modification of the Blauth classification of thumb hypoplasia, type VI, for improved communication regarding this severe type of radial deficiency involving the hand. Type of study/level of evidence Diagnostic IV.

Although congenital thumb absence has been reported frequently in humans, their occurrence in macaques is rare. We observed three cases of spontaneous thumb defects in captive female rhesus monkeys. One animal exhibited bilateral absence and two other presented unilateral thumb absence, all with metacarpal integrity. This report presents the clinical, radiological, and genealogical details as well as possible etiologies in an attempt to draw a parallel with humans and other primate species.

A 24 days old male neonate presented to the University of Gondar Hospital with deformity at the right wrist joint since birth. Physical findings were deformity of the wrist joint with lateral deviation of fingers and absent thumb. Plain radiographs of the wrist joint showed absent radius and bones of the thumb which suggest the diagnosis of radial ray defect. Radial ray defect is a rare congenital defect that may be isolated or associated with other anomalies. This is a rare case of radial ray defect which has no association with other anomalies.

Sonic Hedgehog (SHH) within the posteriorly located zone of polarizing activity is the main controller of the antero-posterior axis of limb development. The ZRS (zone of polarizing activity regulatory sequence) is a long-range limb-specific SHH enhancer. Several point mutations in the ZRS have been described in humans. These mutations cause enhanced SHH activity and ectopic anterior expression of SHH and a variable phenotype of preaxial polydactyly and triphalangeal thumb. Absent thumb or radius has not been reported with ZRS mutations. Here, we report on a family with a variable phenotype of preaxial polydactyly as well as absent thumb and radius, with kidney and cardiac defects. The family was screened for SALL1, SALL4, and TBX5 mutations, but all were normal. Finally, they were screened for ZRS mutations, which showed a novel point mutation within the ZRS, NG_009240.1: g.106954C>T (traditional nomenclature: ZRS619C>T) in the five affected members. This mutation was not previously reported in any public domain database, and was not found in our healthy and ethnically matched control individuals or unaffected family members. We hypothesize that interactions of SHH and SALL1 explain the overlapping features of the family described here and patients with Townes-Brocks syndrome.

We report the first case, in Medline-based literature, of conjunctivitis caused by gram negative diplococcus, Neisseria sicca. Although it is not widely accepted as such, isolation from cultures of repeated eye swab samples suggests that N. sicca may be a pathogen in conjunctival infections. Positive culture for this organism should not be readily dismissed. Such conjunctivitis responded favorably to treatment with netilmicin eye drops.

A 57-year-old male patient visited our clinic for decreased visual acuity in the right eye for 10 days. He denied any trauma history, but recalled that the symptom developed after straining. He had undergone uncomplicated phacoemulsification and posterior chamber intraocular lens (IOL) implantation in the bag of the right eye 11 years ago. The IOL was a three-piece silicone polyimide-haptics design. On slit-lamp examination, the IOL optic and proximal part of nasal fractured haptic were found in the anterior chamber. The distal part of fractured haptic was observed in the capsular bag. He underwent IOL exchange. The fracture site of the haptic was near the optic-haptic junction. This is the unique case report of a spontaneous fracture of an implanted posterior chamber polyimide IOL haptic, which implies the possibility of IOL haptic fracture in various haptic materials.

Thumb hypoplasia represents a spectrum of deficiencies from a slightly smaller thumb to a completely absent thumb. The clinical features of a type II hypoplastic thumb include a narrow thumb-index web space, absent thenar muscles, and instability of the thumb metacarpophalangeal joint. This article will focus thumb reconstruction using the ring finger flexor digitorum superficialis to provide opposition and restore metacarpophalangeal joint stability. The technique, postoperative protocol, outcome, and complications will be emphasized.

Great toe to thumb transplantation offers the ideal reconstruction because it replaces the absent thumb with nearly identical anatomy. Functional donor site morbidity is minimal as compared with the aesthetic one; however, in comparison to the hand, the functional and aesthetic gain is tremendous. Anatomic and operative details are discussed along with preoperative and postoperative management. Postoperative functional evaluation of the thumb and donor site is assessed. Forty years of experience with this composite tissue transplantation has proven its status as the gold standard for thumb reconstruction.

Background A novel opposition tendon transfer, previously described by Snow and Fink in adults but not in children, can provide better functional results and cosmetic appearance than the currently preferred Huber transfer. Methods Thirty-one children were born either without a thumb (17) or with a hypoplastic thumb (14). Thirty-eight thumbs were classified according to the Blauth classification as stages II, IIIA, IIIB, IV, and V respectively. The opposition tendon transfer was performed between the ages of 4 and 10, using the expendable flexor digitorum superficialis (FDS) tendon from the ring finger which was passed through a 3-mm-diameter window in the transverse carpal ligament, routed subcutaneously across the palm and attached to the insertion of the abductor pollicis brevis on the base of the proximal phalanx of the thumb. This creates a vector of pull from the ulnar side of the hand which both abducts and pronates the thumb. Twenty-one hands underwent additional procedures such as four-flap Z-plasty (11), ulnar collateral ligament reconstruction (6), joint transfer, full-thickness skin grafting, and distraction lengthening. Results The ability of each child to oppose their thumb to the index finger (score 2), middle finger (score 3), ring finger (score 4), or small finger (score 5) was assessed preoperatively and postoperatively by their Kapandji score. Thirty-one children (81.6 %) achieved a postoperative Kapandji score of 5, while 7 children (18.4 %) had a postoperative Kapandji score of 4. No deformities were observed, and the metacarpophalangeal (MCP) joint was stabilized with the other slip of the FDS when necessary. Conclusions An opposition transfer using the FDS tendon of the ring finger through a window in the transverse carpal ligament is a simple and reliable technique for improving thumb function in children born with an absent or hypoplastic thumb. This transfer does not produce a concave deformity in the hypothenar eminence like the Huber transfer, provides better pronation, and affords concurrent stabilization of the MCP joint.

In children with absent thumbs, some authors have stated that ‘relative’ contraindications of pollicization include severe fixed flexion contracture and instability of the proximal interphalangeal joint of the index finger. The current author does not consider severe proximal interphalangeal joint deformities of the index finger as a contraindication to pollicization; and hence these children are offered the procedure. A literature review did not reveal any study that specifically documents the outcome of pollicization in these cases. The current series included five children: four with severe (over 80°) fixed flexion contracture of the proximal interphalangeal joint of the index finger and one with instability of the proximal interphalangeal joint. All children were initially assessed during infancy at their local hospitals and the parents were informed that a pollicization procedure would yield a poor outcome. Presentation to the author was relatively late at a mean of 9.3 years (range 2.5–12). All children underwent two surgical procedures: a pollicization followed by fusion of the new metacarpophalangeal joint. The overall early functional outcome was good and all children/parents were satisfied with the procedure. These encouraging results warrant a prospective long term study on various conditions that are considered as ‘relative’ contraindications to the pollicization procedure. Level evidence: IV Therapeutic (case series)

Radial longitudinal deficiencies are characterized by radial deviation of the wrist, a short and bowed forearm and a non-functional or absent thumb. The deformity is caused by varying degrees of underdevelopment and malformation including hypoplasia of the bones, joints, muscles, tendons, ligaments, nerves and vessels. This study describes our results from centralization in 8 limbs with Bayne type III-IV radial longitudinal deficiencies. We reviewed 8 limbs from 6 patients with a centralization performed between 2002 and 2010. The median patient age at the time of the operation was 2.75 years (range 2-14 years). The sex ratio was 4 male and 2 female. All patients underwent centralization. One patient had an additional 6.5 cm elongation of the ulna bone by means of a circular external fixator (CEF). The median follow-up time from centralization was 4,5 years (range 2-10 years). The result was considered to be excellent in 4 cases, good in 3 cases and fair in 1 case. Radial deviations regenerated in all cases. During follow-up, a radial deviation of 15 degrees developed in one patient; this deviation did not require surgical correction. Hand and wrist movements were within acceptable levels. Movement and function of the wrist and forearm can be obtained through centralization of the wrist and ulnar elongation when necessary. A cosmetically pleasant appearance can be ensured., Radial uzunluk eksiklikleri elbileğinin radial eğriliği, kısa ve eğri önkol ve eksik veya fonksiyon görmeyen başparmak ile karakterizedir. Deformite kemikler, eklemler, kaslar, tendonlar, ligamentler sinirler ve damarların hipoplazisini içeren malformasyon ve az gelişmenin çeşitli derecelerine neden olur. Bu çalışma, Bayne tip 3 ve 4 radial uzunluk eksiklikliği olan 8 ekstremitedeki santralizasyon sonuçlarımızı tanımlamıştır. 2002 ve 2010 arasında santralizasyon yapılan 6 hastanın 8 ekstremitesi gözden geçirildi. Operasyon zamanında ortalama hasta yaşı 2.75 yıldı (2-14 yıl arası). Cinsiyet oranı 4 erkek, 2 kadın idi. Bütün hastalara centralizasyon yapıldı. Bir hastaya ek olarak ulna kemiğine sirkuler eksternal fiksatör (CEF) vasıtasıyla 6,5 cm uzama sağlandı. Santralizasyon için ortalama takip süresi 4,5 yıldı (2-10 yıl arası). Sonuç 4 olguda mükemmel, 3 olguda iyi, 1 olguda orta kabul edildi. Radial eğrilik tüm olgularda düzeldi. Takip sırasında, bir hastada 15 derece radial eğrilik gelişti; bu eğriliğe cerrahi düzeltme gerekmedi. El ve elbileği hareketleri kabul edilebilir düzeyler içindeydi. Elbileği ve önkol hareket ve fonksiyonu elbileğinin santralizasyonu ve gerektiğinde ulnar uzatma yoluyla elde edilebilir. Kozmetik olarak hoş görünüm sağlanabilir

In 1990 Marles and Chudley reported on an infant with absent ulnae and concomitant radial hypoplasia, oligodactyly, hydropsfetalis, and apparent endocardial fibroelastosis (EFE) and, on the basis of phenotype and parental consanguinity, postulated autosomal recessive inheritance. Recently we were privileged to study parts of a fetus who had presented at ultrasonography with cardiac calcifications, micrognathia, and severe ulnar dysgenesis. The small pieces of heart we received showed neither endocardial fibroelastosis nor calcifications. Thus, we had initial doubts that we were dealing with the Marles-Chudley syndrome. However, a review by Chudley of the heart findings in his cases did show the calcifications usually seen in primary or secondary EFE. The parents of Dr. Chudley's patient were Flipino; the father of our patient was a Samoan. This suggests that there exists a gene for autosomal recessive Marles-Chudley syndrome in the Poynesian population with pleiotropic effects on upper limb development and cardiac histogenesis.

We report a patient with severe mental retardation (MR), microcephaly, Dandy-Walker malformation, bilateral lip/palate clefts, hypertrophied sublingual frenulum, lobular tongue, absent thumbs, and other skeletal abnormalities, including Y-shaped metacarpals and urogenital abnormalities. High-resolution karyotype and subtelomeric fluorescence in situ hybridization were normal. We propose that his clinical picture is most consistent with Juberg-Hayward or orocraniodigital syndrome. Several clinical features present in our patient (unilateral distal displacement of elbow position, second-site radioulnar synostosis, bilateral Y-shaped metacarpal, lobular tongue, hypertrophic frenuli, Dandy-Walker malformation) have not previously been reported in this condition, thus expanding the phenotypic spectrum of this rare condition. The presence of these novel findings suggests possible overlap with other syndromes, such as orofaciodigital and Malpuech syndromes.

Congenital anomalies of the upper limb affect approximately 0.1 % of all newborns [1, 2]. The birth of a child with a visible difference invariably has a significant impact on the family. For the child to adjust well to their difference, the family needs to come to terms with the differences in their child early on so they can support them as they grow.

Annular elastolytic giant cell granuloma is a condition characterized histologically by damaged elastic fibers associated with preponderance of giant cells along with absence of necrobiosis, lipid, mucin, and pallisading granuloma. It usually occurs on sun-damaged skin and hence the previous name actinic granuloma. A similar process occurs on the conjunctiva. Over the past three decades only four cases of conjunctival actinic granuloma have been documented. All the previous patients were females with lesions in nasal or temporal bulbar conjunctiva varying 2-3 mm in size. We report a male patient aged 70 years presenting with a 14 mm × 7 mm fleshy mass on right lower bulbar conjunctiva. Clinical differential diagnoses were lymphoma, squamous cell carcinoma in situ and amyloidosis. Surgical excision followed by histopathology confirmed it to be a case of actinic granuloma. This is the first case of isolated conjunctival actinic granuloma of such a large size reported from India.

A 65-year-old lady presented with decreased vision in left eye since seven months. Vision was 6/9 in right eye and 6/36 in left. Examination revealed idiopathic, full-thickness macular hole in left eye; confirmed by optical coherence tomography (OCT). Patient underwent phacoemulsification with intraocular lens (IOL) implantation, vitrectomy, internal limiting membrane (ILM) peeling and 14% C 3 F 8 gas injection. OCT repeated after six weeks revealed type II closure with cuff of subretinal fluid. Four weeks later, patient underwent fluid-gas exchange with 14% C 3 F 8 gas and postoperative positioning. OCT was repeated after two weeks, which showed complete closure of the macular hole. OCT can help in selection of eyes for re-surgery that stand a better chance for hole closure. Macular holes with cuff of subretinal fluid are probably more likely to close on re-surgery than those without. However, larger studies with longer follow-up are required to validate this finding.

Cholesterol granuloma is a rare, well-defined lesion of the orbit. In the orbit, diploe of the frontal bone is involved almost exclusively. We report an atypical case of cholesterol granuloma involving superomedial quadrant of orbit. A 42-year-old male presented with progressive, painless, proptosis with infero-temporal displacement of left eye. A large mass was felt beneath the bony orbital margin in the superomedial quadrant of the left orbit. Computerized tomography (CT) scan revealed an extraconal superomedial, heterogeneous enhancing mass which was isodense with brain and pushing the globe inferolaterally and anteriorly. Excision biopsy of the tumor revealed the typical features of a cholesterol granuloma without any epithelial elements. Cholesterol granuloma of the orbit is a rare entity, but it can be diagnosed and differentiated from other lesions of the superior orbit by its characteristic clinical, radiological and histopathological features. An appropriate intervention in time carries a good prognosis with almost no recurrence.

Rhodotorula mucilaginosa rarely cause keratitis in immunocompromised individuals. A 30 year old male with history of minor trauma presented with cotton wool like stromal infiltration and hypopyon in left eye. Microbiological examination of corneal scraping showed fungal hyphae and yeast cells in direct smear. Molecular identification of the organism was performed which showed 100% homology with Rhodotorula mucilaginosa. Management of these cases is difficult often necessitating surgical procedures. However further reports are necessary to understand the disease and establish a treatment protocol.

This is a single case report of an elderly patient who had blunt trauma in an eye that had phacoemulsification and two trabeculectomies. She had good vision with a well-functioning bleb before the trauma. She presented during her routine follow-up visit for glaucoma with isolated aniridia and an intact globe. The capsular bag, zonules, and the intraocular lens were intact. The cupping was 0.8, and the rest of the fundus and macula were normal. Pigments were seen over the sclera extending posteriorly upto the fornix. Gonioscopy revealed only faint pigments at the fistula. Following the trauma, the intraocular pressure had increased to 26 mm Hg. The mechanism and the management of the glaucoma are discussed.

Pellucid marginal degeneration (PMD) is an uncommon cause of inferior peripheral corneal thinning disorder, characterized by irregular astigmatism. We analyzed a case of bilateral PMD patient and treated one eye with corneal collagen cross-linking (CXL) therapy. Corneal topography was characteristic for PMD. Visual acuity, slitlamp examinations, tonometry, and corneal thickness were observed. Simulated keratometric and topographic index values were detected with corneal topography. Uncorrected, LogMAR visual acuity has improved from +0.8 to +0.55 during the 6 months and +0.3 during the 8 months follow-up after CXL. Pachymetry values and intraocular pressure showed no changes. Keratometric values and topografic indexes disclosed no progression of the disease. CXL may postpone or eliminate the need of corneal transplantation in cases with PMD.

OBJECTIVE: To evaluate the prognostic value of absent thumb pain sensation in newborns and young infants with birth brachial plexopathy. METHODS: We evaluated 131 patients with birth brachial plexopathy with less than two months of age. Pain sensation was evoked by thumb nail bed compression to evaluate sensory fibers of the upper trunk (C6). The patients were followed-up monthly. Patients with less than antigravity elbow flexion at six months of age were considered to have a poor outcome. RESULTS: Thirty patients had absent thumb pain sensation, from which 26 showed a poor outcome. Sensitivity of the test was 65% and specificity was 96%. CONCLUSION: Evaluation of thumb pain sensation should be included in the clinical assessment of infants with birth brachial plexopathy.

Dorsal dimelia is a rare form of duplication along the dorsoventral axis as opposed to polydactyly and hyperphalangism, which are duplications along the radioulnar and proximodistal axes, respectively. All previous cases of dorsal dimelia involved the ulnar digits. We report the first human case of dorsal dimelia of a radial digit (index finger) in a patient with absent thumb and radial club hand. Associated anomalies of previously reported cases of dorsal dimelia are reviewed and their pathogenesis is discussed.

Implantation of iris-claw Artisan intraocular lens (IOL) is a surgical option for correction of aphakia; however, these IOLs have not been used in eyes with uveitis including Fuchs' heterochromic iridocyclitis (FHI) due to possible risk of severe postoperative intraocular inflammation. In the case reported here, we secondarily implanted an Artisan IOL in a 28-year-old man with FHI who had aphakia with no capsular support due to a previous complicated cataract surgery. Enclavation was easily performed and no intraoperative complication was noted. Postoperative course was uneventful with no significant anterior chamber inflammation during 12 months of follow-up. Although there were few deposits on the IOL surface, the patient achieved a best-corrected visual acuity of 20/20 without developing glaucoma or other complications. Therefore, Artisan IOL may be considered for correction of aphakia in patients with FHI. However, studies on large number of patients are required to evaluate safety of the procedure.

Ocular dirofilariasis mostly presents as a subconjunctival or eyelid lesion. [1] Intraocular dirofilarial infestation is rare. [2],[3] We report a case of a young woman who was accidentally detected to have a live motile worm in the anterior segment in one eye and a cystic lesion on the optic disc in the other eye. To our knowledge, bilateral intraocular dirofilariasis has never been reported.

We report on an infant with tetrasomy of 5q35.2-5q35.3, an interstitial triplication on one chromosome and normal complement on the other. The patient has some features of Hunter-McAlpine syndrome including intrauterine growth retardation (IUGR), almond-shaped eyes, epicanthal folds, and downturned mouth with thin vermillion of the upper lip. In addition, left ventricular noncompaction and absent thumbs were identified, which have never been described in Hunter-McAlpine syndrome. This chromosome abnormality is distinct from those previously reported. Within this region of tetrasomy is MSX2, a highly conserved homeobox containing gene. Increased copies of MSX2 have been previously associated with craniosynostosis. Our patient's only skeletal defect is absent thumbs, also potentially related to increased dosage of MSX2 which is important for limb formation. In addition, MSX2 is expressed in the developing heart and overexpression of this gene may disrupt the co-regulation of other cardiac genes in this region, namely CSX1.

Purpose To describe radial longitudinal deficiency with hypoplastic or absent thumb and cutaneous syndactyly between the most radial digits. In addition, to discuss the clinical relevance and unique treatment decisions involved in optimizing functional outcomes in these patients. Methods A total of 163 extremities of 122 patients with radial longitudinal deficiencies were reviewed. We reviewed radiographs and clinical images that were available, with most radial hypoplastic digit and cutaneous syndactyly to the adjacent finger. Results There were 7 hands with this type of deformity. Four cases had a hypoplastic thumb associated with cutaneous syndactyly between the thumb and index finger. Three cases had a deformity in which the thumb was absent and the hypoplastic index finger was syndactylized to the long finger. Proximal and distal radioulnar synostoses were associated with these deformities in 3 patients. Conclusions Because the most radial digit is severely hypoplastic in this type of deformity, pollicization is usually indicated. However, the pollicization procedure must be modified due to associated syndactyly with different degrees of hypoplasia or absence of the intrinsic muscles. This type of deformity should be distinguished from hypoplastic thumb without syndactyly. Type of study/level of evidence Therapeutic IV.