Metatarsal Bones/surgery* ; Thumb/abnormalities* ; Metacarpal Bones/surgery* ; Plastic Surgery Procedures

OBJECTIVE: To explore the genetic basis for a child presented with renal failure and multi-cystic dysplastic kidney without anal atresia. METHODS: Peripheral blood sample of the child and his parents were collected and subjected to whole exome sequencing. Candidate variant was verified by Sanger sequencing. RESULTS: The 40-day-old infant had presented with vomiting brown matter in a 7 days neonate and was transferred for kidney failure. Clinical examination has discovered renal failure, polycystic renal dysplasia, congenital hypothyroidism, bilateral thumb polydactyly, sensorineural hearing loss and preauricular dermatophyte. Genetic testing revealed that he has harbored a previously unreported c.824delT, p.L275Yfs*10 frameshift variant of SALL1 gene, which was confirmed by Sanger sequencing as de novo. CONCLUSION The patient was diagnosed with Townes-Brocks syndrome due to the novel de novo variant of SALL1 gene. Townes-Brocks syndrome without anal atresia is rare. Above finding has also enriched the mutational spectrum of the SALL1 gene.
Abnormalities, Multiple ; Anus, Imperforate/genetics* ; Child ; Female ; Hearing Loss, Sensorineural/genetics* ; Humans ; Infant ; Infant, Newborn ; Male ; Renal Insufficiency ; Thumb/abnormalities* ; Transcription Factors/genetics*

BackgroundHand 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.

MethodsSixteen 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.

ResultsThe 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.

ConclusionsSports 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.

Adult ; Athletic Injuries ; diagnosis ; surgery ; Female ; Hand Deformities ; diagnosis ; surgery ; Humans ; Ligaments ; diagnostic imaging ; surgery ; Magnetic Resonance Imaging ; Male ; Metacarpophalangeal Joint ; diagnostic imaging ; surgery ; Middle Aged ; Soft Tissue Injuries ; diagnostic imaging ; surgery ; Tendon Injuries ; diagnostic imaging ; surgery ; Thumb ; abnormalities ; surgery

OBJECTIVETo identify the causative mutations in two Chinese Han families featuring triphalangeal thumbs (TPT) and preaxial polydactyly (PPD).

METHODSBlood samples were collected from 9 members (2 affected) from family 1 and 14 members (7 affected) from family 2. After genomic DNA was extracted, the ZPA regulatory sequence (ZRS) region was analyzed with real-time quantitative PCR (qPCR) and Sanger sequencing. For family 1, haplotypes compassing the ZRS were also analyzed with short tandem repeats (STR) and single nucleotide changes.

RESULTSNo copy number mutation around the ZRS region was found in both families. Two heterogeneous mutations in the ZRS (406A>G and 105C>G) were found to co-segregate with the TPT/PPD malformation in family 1 and 2, respectively. Neither mutation was detected in 200 healthy individuals. Haplotype analysis and Sanger sequencing of family 1 indicated that the first TPT/PPD patient in the family was both germline and somatic mosaic for the 406A>G mutation.

CONCLUSIONTwo pathogenic ZRS mutations, 105C>G and 406A>G, have been identified in two Chinese Han families with TPT/PPD, among which the 406A>G mutation was de novo.

Asian Continental Ancestry Group ; genetics ; Female ; Hand Deformities, Congenital ; genetics ; Haplotypes ; Humans ; Male ; Mutation ; Polydactyly ; genetics ; Regulatory Sequences, Nucleic Acid ; Thumb ; abnormalities

The recent development of advanced high-resolution transducers has enabled the fast, easy, and dynamic ultrasonographic evaluation of small, superficial structures such as the finger. In order to best exploit these advances, it is important to understand the normal anatomy and the basic pathologies of the finger, as exemplified by the following conditions involving the dorsal, volar, and lateral sections of the finger: sagittal band injuries, mallet finger, and Boutonnière deformity (dorsal aspect); flexor tendon tears, trigger finger, and volar plate injuries (volar aspect); gamekeeper's thumb (Stener lesions) and other collateral ligament tears (lateral aspect); and other lesions. This review provides a basis for understanding the ultrasonography of the finger and will therefore be useful for radiologists.
Collateral Ligaments ; Congenital Abnormalities ; Fingers* ; Pathology ; Tears ; Tendons ; Thumb ; Transducers ; Ultrasonography* ; Upper Extremity ; Palmar Plate

BACKGROUND: A number of conditions can alter a person's fingernail configuration. The ratio between fingernail width and length (W/L) is an important aesthetic criterion, and some underlying diseases can alter the size of the fingernail. Fingernail curvature can be altered by systemic disorders or disorders of the fingernail itself. Although the shape and curvature of the fingernail can provide diagnostic clues for various diseases, few studies have precisely characterized normal fingernail configuration. METHODS: We measured the W/L ratio of the fingernail, transverse fingernail curvature, hand length, hand breadth, and distal interphalangeal joint width in 300 volunteers with healthy fingernails. We also investigated whether age, sex, height, and handedness influenced the fingernail W/L ratio and transverse fingernail curvature. RESULTS: In women, fingernail W/L ratios were similar across all five fingers, and were lower than those in men. The highest value of transverse fingernail curvature was found in the thumb, followed by the index, middle, ring, and little fingers. Handedness and aging influenced transverse fingernail curvature, but not the fingernail W/L ratio. Fingernails were flatter on the dominant hand than on the non-dominant hand. The radius of transverse fingernail curvature increased with age, indicating that fingernails tended to flatten with age. CONCLUSIONS: Our quantitative data on fingernail configuration can be used as a reference range for diagnosing various diseases and deformities of the fingernail, and for performing reconstructive or aesthetic fingernail surgery.
Aging ; Anthropometry ; Congenital Abnormalities ; Female ; Fingers ; Functional Laterality ; Hand ; Humans ; Joints ; Male ; Nail Diseases ; Nails* ; Radius ; Reference Values ; Thumb ; Volunteers

Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the classic triad of congenital anomalies of the anus, thumbs, and ears, with variable expressivity. Additionally, renal malformations, cardiac anomalies, and endocrine and eye abnormalities can accompany TBS, although less frequently. TBS is inherited in an autosomal dominant fashion; however, about 50% of patients have a family history of TBS and the remaining 50% have de novo mutations. SALL1, located on chromosome 16q12.1, is the only causative gene of TBS. SALL1 acts as a transcription factor and may play an important role in inducing the anomalies during embryogenesis. Clinical features of TBS overlap with those of other multiple anomaly syndromes, such as VACTERL syndrome, Baller-Gerold syndrome, Goldenhar syndrome, cat eye syndrome, and Holt-Oram syndrome. Consequently, there are some difficulties in differential diagnosis based on clinical manifestations. Herein, we report a Korean family with two generations of TBS that was diagnosed based on physical examination findings and medical history. Although the same mutation in SALL1 was identified in both the mother and the son, they displayed different clinical manifestations, suggesting a phenotypic diversity of TBS.
Anal Canal ; Animals ; Anus, Imperforate ; Cats ; Diagnosis, Differential ; Ear ; Embryonic Development ; Eye Abnormalities ; Family Characteristics ; Female ; Goldenhar Syndrome ; Hearing Loss, Sensorineural ; Humans ; Mothers ; Physical Examination ; Polydactyly ; Pregnancy ; Thumb ; Transcription Factors

OBJECTIVETo study the classification and individualized treatment of the terminal phalanx of thumb duplication.

METHODSFrom Apr. 2003 to Dec. 2012, 76 patients with 77 involved thumbs duplication at the level which is distal to the interphalangeal joint were retrospectively studied. Based on the morphology (the nail width and the thumb circumference) and the deviation of the thumb, we classified the terminal phalanx of thumb duplication into 5 types as Type A (no bony connection called floating thumb), Type B(asymmetry and no deviation), Type C(asymmetry and deviation), Type D (symmetry and no deviation) and Type E(symmetry and deviation). Different surgical procedures were selected according to different types. Simple excision of the smaller thumb was adopted for Type A case. Removement of the smaller thumb (usually the radial) and of the collateral ligament of the interphalangeal joint were selected for Type B. Removement of the smaller thumb (usually the radial) and reconstruction of the collateral ligament of the interphalangeal joint, as well as corrective osteotomies at the neck of the proximal phalanx were performed for Type C. The modified Bilhaut-Cloquet procedure with reconstruction of the collateral ligament of the interphalangeal joint were adopted in Type D. The classical Bilhaut-Cloquet procedure, or the modified Bilhaut-Cloquet procedure with reconstruction of the collateral ligament of the interphalangeal joint and corrective osteotomies at the neck of the proximal phalanx were performed in Type E. The results were assessed by an evaluation form for thumb duplication by the Japanese Society for Surgery of the Hand.

RESULTSAccording to our new classification standard, there were 3 cases with Type A duplicated thumbs, 36 with Type B, 13 with Type C, 15 with Type D, 10 with Type E. All the 76 patients underwent the individualized surgical treatment. The patients were followed up for 6-60 months. According to the evaluation form, excellent results were achieved in 66 thumbs, good in 9 thumbs and fair in 2 thumbs.

CONCLUSIONSThe new classification could comprehensively describe the clinical features of the terminal phalanx of congenital thumb duplication. Individualized therapy, including basic and repeated surgical procedure could be adopted for each type with satisfactory results.

Child ; Collateral Ligaments ; surgery ; Finger Phalanges ; surgery ; Humans ; Orthopedic Procedures ; methods ; Osteotomy ; methods ; Polydactyly ; classification ; surgery ; Reconstructive Surgical Procedures ; methods ; Retrospective Studies ; Thumb ; abnormalities

OBJECTIVETo investigate an effective therapeutic method for the secondary deformity after the correction of the Wassel type IV thumb duplication.

METHODS9 cases of Wassel W-D Complex thumb deformities in children with postoperative secondary deformity, including 6 males and 3 female, were treated. The age ranged from 2.0 to 14 years old with an average of 5.3 years old. During the operation, the anatomical structure was dissected to observe the structure and alignment of the flexor tendon as well as anatomical structure of the joint. In the meantime, the flexor pollicis longus tendon was shifted, A2 pulley was reconstructed, joint capsule was released and contracted, the end point of thenar was shifted. Kirschner wires fixation were used for about 4-5 weeks, the brace fixation for about 3 months.

RESULTSAll the patients had radial side skin contracture of the interphalangeal joint, radial deviation of the thumb tip, radial side contracture and ulnar relaxation of the joint capsule. Flexor hallucis longus tendon was located in front of the radial side of the proximal phalanx, with no wrapped sheath or A2 pulley. Flexor hallucis longus tendon was attached to the thumb tip substrate, of which 1/3 was located in the center and 2/3 in the radial side. The thumb tip rotated about 10 degrees-15 degrees to the radial side. The patients were followed up for 6-38 months, with an average of 24 months. We adopted Tada standard to evaluate the follow-up results as excellent in 7 cases, good in 1 case, poor in 1 case.

CONCLUSIONSSoft tissue reconstruction for the secondary deformity after the correction of the Wassel type IV-D thumb duplication is an effective method. Application of the brace after removal of Kirschner wires has an important role in preventing the secondary deformity.

Adolescent ; Child ; Child, Preschool ; Female ; Hand Deformities ; etiology ; surgery ; Humans ; Male ; Reconstructive Surgical Procedures ; methods ; Syndactyly ; surgery ; Thumb ; abnormalities ; surgery

Double trisomy mosaicism of two different cell lines is extremely rare, particularly those that involve constitutional trisomy 8. We report a case of 47,XXX/47,XX,+8 in a 12-year-old female presenting with several skeletal anomalies. She exhibited distinct phenotypic features such as tall stature, deviation of the left middle finger, webbing of both thumbs and flexion deformities of the both third and fifth distal intermediate phalanges. A mild impulse-control disorder was observed, without mental retardation. Chromosomal and fluorescence in situ hybridization analysis demonstrated double trisomy mosaicism both on lymphocytes and buccal epithelial cells.
Cell Line ; Child ; Congenital Abnormalities ; Epithelial Cells ; Female ; Fingers ; Fluorescence ; Humans ; In Situ Hybridization ; Intellectual Disability ; Lymphocytes ; Mosaicism* ; Thumb ; Trisomy*