Absent Thumbs Research Articles

Pollicization of the index finger requiring secondary fusion of the new metacarpophalangeal 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).

The Snow-Fink technique as an opposition tendon transfer for children born with a hypoplastic or absent thumb.

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. 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. 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. 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.

Radial Ray Defect

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.

Our Experiences in the Surgical Treatment of Bayne Type III and IV Radial Longitudinal Deficiencies

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.

Abstract SY33-01: Mechanism of tumor suppression by the Fanconi anemia proteins

Abstract DNA Interstrand crosslink (ICL) repair takes place at sites where the two strands of the DNA have become covalently linked by the byproducts of lipid peroxidation, endogenous aldehydes, and yet unknown metabolites. The repair of these lethal lesions takes place during DNA replication and requires a dual excision of the crosslinked bases and repair of the resulting double-strand breaks. This feat is accomplished in a multi-step process mediated by the Fanconi anemia (FA) pathway and factors that promote Homologous Recombination (HR), including BRCA1 and BRCA2 (reviewed in (1)). FA patients lack components of this pathway and suffer from bone marrow failure and infertility presumably due to the inability to maintain hematopoietic and germline stem cells. FA is also associated with a very high incidence of cancer, most likely due to the mutagenic nature of incompletely repaired ICLs. On the other hand, the induction of ICL is a major method of cancer treatment and often leads to excellent outcomes (e.g. cisplatin treatment of testicular cancer). Major effort has been directed into the identification of all of the components of the ICL repair pathways and the elucidation of the mechanism of such repair in the hopes of understanding how it suppresses tumorigenesis. Fanconi anemia registry (IFAR) housed at the Rockefeller University has been collecting patient samples and information since 1982. Using candidate gene sequencing of patient samples from the IFAR, we first found SLX4 as a new FA gene. SLX4 is a scaffold protein that interacts with three nucleases: XPF, MUS81, and SLX1 (2-4). We showed that this “Swiss army knife of repair” is mutated in patients with typical features of Fanconi anemia (5). Using SLX4 null patient cell lines, we explored the nuclease requirements in different DNA repair pathways during DNA replication and showed that the SLX4-bound XPF nuclease is essential for the ICL repair (6). This has been recently validated by work that identified XPF as a gene mutated in FA (7). In a separate study, we demonstrated that SLX4 is an important regulator of processing of replication intermediates including the Holliday junctions even under conditions of unperturbed DNA replication (8). This activity, although important for normal cellular growth, can be very mutagenic and thus cancer inducing. In our newest work, we have concentrated on a 12-year-old patient who was born with radial dysplasia, absent right thumb and tethered cord; the patient also exhibited enuresis and several absent permanent teeth. Marrow function is normal to date. No mutations in any of the known FA genes were identified. Whole exome sequencing identified an unexpected novel de novo mutation in RAD51. RAD51 is the mammalian homolog of RecA, mediating the homology search during HR. Although RAD51 foci formation is reduced and delayed following treatment with a range of DNA damaging agents, the patient fibroblasts do not exhibit sensitivity to ionizing radiation. In addition, the patient fibroblasts show wild type levels of sister chromatid exchanges following mitomycin C treatment, and are capable of performing HR for repairing dysfunctional GFP gene, as assessed by the DR-GFP assay. Collectively, these results suggest HR repair of double strand breaks is not impaired in the patient cells. Patient fibroblasts are hypersensitive to crosslinking agents and PARP inhibition. Following mitomycin C treatment, the cells exhibit elevated levels of both RPA foci formation and phosphorylation, indicating that RAD51 inhibits resection of nascent DNA strands, thereby stabilizing the ICL for its subsequent repair. Our study of the RAD51 patient mutation identifies the essential function of RAD51 at sites of stalled replication forks that is critical for the accurate repair of ICLs. Our results also suggest that the tumor suppressive role of RAD51-interacting proteins, including BRCA2, RAD51C, and RAD51D (all implicated in breast and ovarian cancer development) may exert their effect through this stabilizing activity of RAD51 at stalled replication forks.

Hand Function in Adults with Radial Longitudinal Deficiency

Functional impairment in individuals with radial longitudinal deficiency can be influenced by several factors, including a short and bowed forearm, radial deviation of the wrist, a non-functional or absent thumb, limited finger motion, and impaired grip strength, but their relationship with activity and participation in adults with radial deficiency is not known. Twenty individuals, eighteen to sixty years of age, who had Bayne type-II to V radial longitudinal deficiency, were examined in the context of the International Classification of Functioning, Disability and Health. Body function and structure were evaluated by measures of range of motion, grip strength, key pinch, sensibility, and radiographic parameters. Activity was evaluated by the Box and Block Test and the Sollerman test, and participation was evaluated by QuickDASH (the short form of the Disabilities of Arm, Shoulder and Hand outcome measure) and by the Medical Outcomes Study 12-Item Short Form Health Survey. Statistical correlations among assessments of body function and structure, activity, and participation were examined. The mean total active motion of the wrist (43°) and mean total active motion of the digits (377°) were less than the norms. The mean radial deviation of the wrist was 31°. The mean grip strength (4.0 kg), key pinch (1.4 kg), and scores for the Box and Block Test (55 blocks per minute) and the Sollerman test on hand function (56 points) were considerably lower than the norms. The mean scores were 18 points for QuickDASH, 51 points for Short Form-12 physical component summary, and 53 points for Short Form-12 mental component summary. Significant relationships were found between the Box and Block Test and grip strength (p = 0.012), key pinch (p < 0.001), and total active motion of digits (p < 0.001); between the Sollerman test and the total active motion of elbow (p < 0.001) and the total active motion of digits (p < 0.001); between the QuickDASH and forearm length (p < 0.001), the total active motion of elbow (p = 0.001), and the total active motion of digits (p < 0.001); between the Short Form-12 physical component summary and grip strength (p = 0.016), forearm length (p < 0.001), total active elbow motion (p < 0.001), and total active digit motion (p < 0.001); and between the Short-Form-12 mental component summary and radial deviation of the wrist (p = 0.019). No significant correlations were found between the radiographic measurement of the radial deviation of the wrist (total forearm angle) and the Box and Block Test (p = 0.244), the Sollerman test (p = 0.775), QuickDASH (p = 0.156), Short Form-12 physical component summary (p = 0.107), or Short Form-12 mental component summary (p = 0.129). In individuals with radial longitudinal deficiency, grip strength, key pinch, forearm length, and elbow and digital motion seem to be more important for the individual's activity and participation than the radial angulation of the wrist. Prognostic Level IV. See Instructions for Authors for a complete description of levels of evidence.

Pollicization of the index finger in Fanconi anaemia: appearances and functionality 40 years after the intervention

Fanconi anaemia (FA) is an inherited bone marrow failure syndrome resulting from disruption of a polygenic DNA damage response pathway with variable congenital and developmental abnormalities. Radial ray and thumb abnormalities are classical diagnostic features. These can vary in their clinical severity, but often have significant impact on development and hand usage in later life. Absence or severe hypoplasia of the thumbs can be surgically managed by pollicization with ante-position of the index finger. Very long term outcome and performance in adult life is not well documented. Here we illustrate functionality and appearances of the hands of a 47-year-old woman diagnosed with FA at the age of 3 years because of right thumb absence, severe hypoplasia of the left thumb and thrombocytopenia. Surgery on both hands was carried out shortly after the diagnosis. Clinical documentation from the 1960s and 1970s is unavailable. After completing school she worked in a responsible office-based position. She married, and after several years living abroad, returned to our region and is now followed up in our FA service. She has mild thrombocytopenia with a platelet count of 117 × 109/l, but otherwise normal peripheral blood cell counts with a moderately hypoplastic bone marrow. There is no evidence of mosaicism with persistent FA characteristic G2 arrest spontaneously and with low dose mitomycin C (MMC). At the age of 47 years her hands appear as illustrated. Frequent and purposeful use of the pollicized index finger generated a thenar-like bulk between the opposed index finger and the second finger. Magnetic resonance imaging illustrates the detailed anatomy. Coronal T1 images (A & B) demonstrate normal position of digits 3, 4 and 5 (A – solid arrows) with transposition of the 2nd metacarpal (A – dashed arrow) to create a pseudo 1st metacarpal. The pseudo 1st proximal phalanx (B – dashed arrow) is seen adjacent to a tissue mass placed at the site of the original location of the 2nd metacarpo-phalangeal joint (B – solid arrow). A whole forearm maximum intensity projection from fat- saturated T1 weighted images (C) clearly demonstrates the relationship between the pseudo 1st finger position (dashed arrow), and 3rd, 4th and 5th fingers (solid arrows) with interposed fat (open arrow). Her ante-positioned index fingers had excellent functionality. An illustration of her handwriting is shown in the lower panel (A – insert). To our knowledge this is the longest follow-up ever documented of a pollicization of an index finger in FA, with a very satisfactory long-term outcome.

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.

A rare case of Goldenhar syndrome with radial aplasia

Goldenhar syndrome (GS) is a well-recognised condition characterised by variable degree of uni- or bilateral involvement of craniofacial structures involving first and second branchial arches manifesting ocular and auricular anomalies and also vertebral defect. This syndrome presents at birth and its exact aetiology is still unknown. The affections of the neural crest cells may have some role in the multiple malformations of the GS. We present a teenaged female case who attended the Orthopaedic Outpatient Department to receive handicapped certificate in Bankura Sammilani Medical College and Hospital. She had multiple skeletal abnormalities, which included hemifacial microsomia, vertebral malformations in the form of scoliosis, distorted pelvis, but the most striking feature was the absence of thumb and aplasia of radius of left side. She did not suffer from any ocular or auricular abnormalities, neither from any cardiological, urogenital or gastroenteric ones. Radial defects associated with GS might represent a subset within this spectrum. Our case probably belongs to this subset, therefore is a very rare one.

Holt–Oram syndrome with aortopulmonary window – a rare association

A 4-month-old male infant presented with recurrent cough for 2 months. He had a shortened right upper limb with absent right thumb and continuous murmur in the left parasternal area. The X-ray showed an absent radius and the first metacarpal and phalyngeal bones on the right side. Echocardiogram revealed aortopulmonary window and small secundum atrial septal defect. Aortopulmonary window was successfully treated by device closure. Holt-Oram syndrome with aortopulmonary window is an extremely rare association.

Indications for Microsurgical Reconstruction of Congenital Hand Anomalies by Toe-To-Hand Transfers

The indications for microsurgical toe-to-hand transfers in congenital hand surgery have not been defined as clearly as for posttraumatic reconstruction of thumb and finger amputations. The purpose of this study was to develop simple guidelines for referral of children with congenital absent digits for consideration of microsurgical reconstruction with toe-to-hand transfers, based on the morphological or radiographic anatomy of the hand anomaly, not on embryological classifications. From a consecutive series of 204 children referred with congenital absence of the thumb and fingers, 100 toe-to-hand transfers were performed. The indications for microsurgical reconstruction of these children were analyzed retrospectively. Forty-one thumbs were reconstructed in 38 children-15 children with an absent thumb distal to the metacarpal base but with four relatively normal fingers; 12 children with an absent thumb and only one or two digits remaining on the ulnar side of the hand; and 11 children with complete absence of all five digits. Twenty-nine second toes and 12 great toes were transferred to reconstruct congenital absent thumbs. Fifty-nine fingers in 52 children were reconstructed mostly with single second toe transfers-41 children with a thumb but absence of all four fingers and 11 children with absence of all five digits. The morphological or radiographic anatomy of a child's hand with congenital absent digits is a more logical indication for microsurgical reconstruction than any embryological classification. The three most common indications for toe transfers for reconstruction of congenital absent thumbs are (1) absent thumb distal to the carpometacarpal joint with four relatively normal fingers, (2) absent thumb with only one or two fingers remaining on the ulnar border of the hand, and (3) complete absence of the thumb and all four fingers. The two indications for toe transfers for reconstruction of congenital absent fingers are (1) absence of all four fingers but with a normal thumb remaining and (2) complete absence of all five digits.

Yunis-Varón Syndrome Is Caused by Mutations in FIG4, Encoding a Phosphoinositide Phosphatase

Yunis-Varón syndrome (YVS) is an autosomal-recessive disorder with cleidocranial dysplasia, digital anomalies, and severe neurological involvement. Enlarged vacuoles are found in neurons, muscle, and cartilage. By whole-exome sequencing, we identified frameshift and missense mutations of FIG4 in affected individuals from three unrelated families. FIG4 encodes a phosphoinositide phosphatase required for regulation of PI(3,5)P(2) levels, and thus endosomal trafficking and autophagy. In a functional assay, both missense substitutions failed to correct the vacuolar phenotype of Fig4-null mouse fibroblasts. Homozygous Fig4-null mice exhibit features of YVS, including neurodegeneration and enlarged vacuoles in neurons. We demonstrate that Fig4-null mice also have small skeletons with reduced trabecular bone volume and cortical thickness and that cultured osteoblasts accumulate large vacuoles. Our findings demonstrate that homozygosity or compound heterozygosity for null mutations of FIG4 is responsible for YVS, the most severe known human phenotype caused by defective phosphoinositide metabolism. In contrast, in Charcot-Marie-Tooth disease type 4J (also caused by FIG4 mutations), one of the FIG4 alleles is hypomorphic and disease is limited to the peripheral nervous system. This genotype-phenotype correlation demonstrates that absence of FIG4 activity leads to central nervous system dysfunction and extensive skeletal anomalies. Our results describe a role for PI(3,5)P(2) signaling in skeletal development and maintenance.

Hand function in children with radial longitudinal deficiency

BackgroundIn children with hypoplasia or aplasia of the radius (radial longitudinal deficiency) manual activity limitations may be caused by several factors; a short and bowed forearm, radial deviation of the wrist, a non-functional or absent thumb, limited range of motion in the fingers and impaired grip strength. The present study investigates the relation between these variables and activity and participation in children with radial dysplasia.MethodsTwenty children, age 4–17 years, with radial longitudinal dysplasia Bayne type II-IV were examined with focus on the International Classification of Functioning and Health, version for Children and Youth (ICF-CY) context. Body function/structure was evaluated by measures of range of motion, grip strength, sensibility and radiographic parameters. Activity was examined by Box and Block Test and Assisting Hand Assessment (AHA). Participation was assessed by Children’s Hand-use Experience Questionnaire (CHEQ). Statistical correlations between assessments of body function/structure and activity as well as participation were examined.ResultsThe mean total active motion of wrist (49.6°) and digits (447°) were less than norms. The mean hand forearm angle was 34° radially. Ulnar length ranged from 40 to 80% of age-related norms. Grip strength (mean 2.7 kg) and Box and Block Test (mean 33.8 blocks/minute) were considerably lower than for age-related norms. The mean score for the AHA was 55.9 and for CHEQ Grasp efficiency 69.3. The AHA had significant relationship with the total range of motion of digits (p = 0.042). Self-experienced time of performance (CHEQ Time) had significant relationship with total active motion of wrist (p = 0.043). Hand forearm angle did not show any significant relationship with Box and Block Test, AHA or CHEQ.ConclusionIn radial longitudinal deficiency total range of motion of digits and wrist may be of more cardinal importance to the child’s activity and participation than the angulation of the wrist.

Bilateral radial agenesis with absent thumbs, complex heart defect, short stature, and facial dysmorphism in a patient with pure distal microduplication of 5q35.2-5q35.3

BackgroundA partial duplication of the distal long arm of chromosome 5 (5q35-- > qter) is known to be associated with a distinct phenotype referred to as Hunter-McAlpine syndrome. Clinical spectrum of this disorder mainly consists of mental retardation, microcephaly, short stature, skeletal anomalies, and craniofacial dysmorphism featuring flat facies, micrognathia, large, low-set dysplastic ears, hypertelorism, almond-shaped, down-slanted palpebral fissures, epicanthal folds, small nose, long philtrum, small mouth, and thin upper lip. Less frequent remarkable findings include craniosynostosis, heart defect, hypoplastic phalanges, preaxial polydactyly, hypospadias, cryptorchidism, and inguinal hernia. In most patients with a partial duplication of 5q the aberration occurred due to an inherited unbalanced translocation, therefore the phenotype was not reflective of pure trisomy 5q.Case presentationWe report on a 9.5-year-old boy with some feature of Hunter-McAlpine syndrome including short stature, complex heart defect (dextrocardia, dextroversion, PFO), bilateral cryptorchidism, hypothyroidism, and craniofacial dysmorphism. Additionally, bilateral radial agenesis with complete absence of Ist digital rays, ulnar hypoplasia with bowing, choroidal and retinal coloboma, abnormal biliary vesicle were identified, which have never been noted in 5q trisomy patients. Karyotype analysis, sequencing and MLPA for TBX5 and SALL4 genes were unremarkable. Array comparative genomic hybridization detected a duplication on 5q35.2-5q35.3, resulting from a de novo chromosomal rearrangement. Our proband carried the smallest of all previously reported pure distal 5q trisomies encompassing terminal 5.4-5.6 Mb and presented with the most severe limb malformation attributed to the increased number of distal 5q copies.ConclusionsWe postulate that a terminal distal trisomy of 5q35.2-5q35.3, which maps 1.1 Mb telomeric to the MSX2 gene is causative for both radial agenesis and complex heart defect in our proband. A potential candidate gene causative for limb malformation in our proband could be FGFR4, which maps relatively in the closest position to the chromosomal breakage site (about 1.3 Mb) from all known 5q duplications. Since the limb malformation as well as the underlying genetic defect are distinct from other 5q trisomy patient we propose that a position effect resulting in altered long-range regulation of the FGFR4 (alternatively MSX2) may be responsible for the limb malformation in our proband.

Mayer–Rokitansky–Kuster–Hauser Type-B Anomaly with MURCS Association and Gonadal Dysgenesis

The Mayer–Rokitansky–Kuster–Hauser (MRKH) syndrome affects 1 out of 4,500 women [1]. It is a malformation of the female genitals due to interrupted embryonic development of the mullerian (paramesonephric) ducts in otherwise chromosomally, phenotypically, and endocrinologically normal female. It is second to Turner’s syndrome as a cause of primary amenorrhea and was described by Mayer (1829), Rokitansky (1838), Kuster (1910), and Hauser and Schreiner (1961) in various literature studies, which was later designated as MRKH syndrome. MRKH syndrome is broadly subdivided into type A (typical) having symmetric uterine remnants and normal fallopian tubes and type B (atypical) with asymmetric uterine buds and abnormally developed fallopian tubes and other organ system anomalies. Gonadal agenesis or dysgenesis is a chromosomal aberration with a separate spectrum of anomalies having an overall incidence of about 1:2,500 live birth females, half of which have a mosaic pattern. These patients have multiple somatic abnormalities like short stature, broad chest, webbed neck, low hair line, sometimes low I.Q., cardiac abnormalities (1/3 cases), and renal abnormalities (35–70 %). They usually have pre-pubertal female genitalia, bilateral streak gonads, but usually normal uterus and vagina (Figs ​(Figs1,1, ​,22). Fig. 1 Photograph showing webbing of neck Fig. 2 Photograph showing the absence of left thumb and rudimentary right thumb Case Report An 18-year-old girl with primary amenorrhea attended the O.P.D. with normal I.Q. (1st year college student) and without such family history. On examination, her height is 154 cm, weight—42 kg, with webbing of neck, telecanthus; and her left thumb was absent and right thumb rudimentary. Systemic examination was normal. Breasts were well developed and axillary and pubic hairs were present. On perineal examination, there was a hymenal fringe and blind vagina. Uterus was absent on per rectal examination. Routine examination of blood, ECG, and chest X-ray reported normal. X-ray cervical spine showed fusion of the cervical vertebrae (Klippel Feil Syndrome). Serum FSH, LH, TSH, and testosterone were normal. USG [02/10/07] showed right-sided crossed fused ectopic kidney with normal corticomedullary differentiation, uterus absent, and normal gonads. Diagnostic laparoscopic [04/10/07] finding was asymmetric mullerian nodule [rt > lt] with rudimentary fallopian tubes, and both ovaries were normal with signs of ovulation. Karyotyping was Turner’s mosaics pattern (46XX/45XO). Diagnosis of MRKH type-B with gonadal dysgenesis was made. Vaginoplasty was done on 12/10/07 after proper counseling as parents wanted to arrange marriage. Post-operative period was uneventful.

A New Documentation System for Congenital Absent Digits

Congenital absent digits continue to be described by many confusing terms and are currently classified in categories I, V, and VI of the International Federation of Societies for Surgery of the Hand classification and seven subclassification systems. Very few classification systems provide any logical basis for surgical reconstruction. The purpose of this study was to develop a simple alphanumerical documentation system to reproducibly describe the morphological or radiographic appearance of congenital absent digits and facilitate communication of these childrens' hand anomalies from one hand surgeon to another. Dorsal and palmar photographs and PA radiographs of 235 hands in 204 children born with congenital absent digits over a 15-year period were analyzed to determine which digital rays were missing and their level of absence. Each hand can be described by three letters, R (radial), C (central), and U (ulnar), as well as numbers 1-5. The first letter and number designate which rays are missing and the second and third letters and numbers designate which rays remain present. There are 15 morphological phenotypes of congenital absent digits. The three most common phenotypes are U4R1 (a thumb but absence of all four fingers), R1U4 (absent thumb), and R5 (aplastic hand). This new documentation system allows hand surgeons to describe the simple morphological or radiographic appearance of congenital absent digits; incorporates all the previous subclassification systems that have attempted to describe congenital absent digits in radial, central, and ulnar deficiencies, symbrachydactyly, and congenital constriction ring syndrome; and has subsequently allowed the development of an algorithm which predicts whether conventional or microsurgical reconstruction is indicated for each specific phenotype.

A novel mutation in the SHH long‐range regulator (ZRS) is associated with preaxial polydactyly, triphalangeal thumb, and severe radial ray deficiency

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.

Prognostic value of thumb pain sensation in birth brachial plexopathy

To evaluate the prognostic value of absent thumb pain sensation in newborns and young infants with birth brachial plexopathy. 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. Thirty patients had absent thumb pain sensation, from which 26 showed a poor outcome. Sensitivity of the test was 65% and specificity was 96%. Evaluation of thumb pain sensation should be included in the clinical assessment of infants with birth brachial plexopathy.

Rare cardiac defect in Holt-Oram syndrome : case report

Holt-Oram syndrome is an autosomal dominant condition associated with skeletal malformations of the upper limbs, and congenital heart disease. Approximately 40% of cases represent new mutations. Defective development of the embryonic radial ray (e.g. aplasia, hypoplasia, fusion, other anomalous development) results in a wide spectrum of phenotypes, including triphalangeal or absent thumbs, foreshortened arms and phocomelia. The syndrome is associated with defective development of cardiac structures that results in atrial septal defect (ASD), most commonly the secundum type, heart block of varying degrees, or both. We report a rare cardiac defect patent ductus arteriosus (PDA) and ventricular septal defect (VSD) in a case of Holt-Oram syndrome.

VACTERL-H syndrome: first trimester diagnosis

We present two consecutive female fetuses with identical upper limb anomalies. The first of the cases was found to have ventriculomegaly, atrial septal defect, anal atresia, narrowing of the duodenal lumen and unilateral renal agenesis at the end of the second trimester. These abnormalities were characteristic of autosomal recessive VACTERL-H syndrome. The second case was diagnosed to have absent radii and thumbs at 11 weeks. Detailed examination of fetal limbs in the first trimester screening in cases with high risk is useful for early detection of this malformation.