Central Ray Deficiency Research Articles

Treatment Of The Cleft Foot

Congenital cleft foot is a rare anomaly that exhibits many morphological variations. The typical cleft foot is characterized by congenital absence of one or several median rays bordering the cleft. Treatment has been focused on improving function and aesthetic appearance. The most common surgical treatment in the literature includes excision of the useless bony remnants and closure of the cleft. There should be some cases of the cleft foot been managed in M DJamil Hospital but there is no data available during 10 years (2011-2021). We reported a 15-month-old girl born with cleft of the right and polysindactyly of the left foot. The right foot has one central ray deficiency. We performed simple reconstruction of the cleft of the right foot and corrected the polysyndactyly at the same time. The evaluation of the procedures were based on assessments on cosmetic, functional, and roentgenographic results. At 3 month after surgery it showed no widening of the reconstructed foot, no hypertrophic scarring, and no overlapping of the toes. The functional assessment includes evaluation on gait disturbance and ulceration of the foot, we did not find gait disturbance nor ulceration found. According to the roentgenographic evaluation, we found no valgus deformity of the first toe and the distance between the first and fifth metatarsal was not narrowing.

Congenital Upper Limb Deficiencies and Associated Malformations in Finland: A Population-Based Study

To calculate the national incidence of upper limb deficiencies and associated infant mortality in children in Finland using the International Federation of Societies for Surgery of the Hand (IFSSH) classification. Radial ray deficiency, ulnar ray deficiency, central ray deficiency, transverse arrest, phocomelia, undergrowth, and constriction band syndrome with skeletal defects were evaluated. We reviewed upper limb deficiencies among all 753,342 births in Finland during 1993 to 2005 reported to the Finnish Register of Congenital Malformations. Classification of these upper limb deficiencies was done according to a modified IFSSH system. We calculated incidence, gender and side distributions, frequency of associated anomalies, and infant mortality rates in different subtypes of the deficiencies. Familial occurrence of congenital upper limb defects was recorded. A total of 419 cases (234 male, 185 female) of upper limb deficiencies were identified. The national incidence of upper limb deficiencies was 5.56 per 10,000 births and 5.25 per 10,000 live births. The most common upper limb abnormality was radial ray deficiency (138), followed by subgroups of undergrowth (91), upper limb defects due to constriction band syndrome (51), central ray deficiency (41), and ulnar ray deficiency (33). Perinatal mortality was 14%. Infant mortality among children with upper limb deficiencies was 137 per 1,000 live births, compared with an overall infant mortality of 3.7 per 1,000 live births in Finland. Additional birth defects were found in 60% of these children. Prevalence of upper limb defects in relatives of the census population was 2% (11 of 419). The national incidence of upper limb deficiencies is 5.25 per 10,000 live births. Congenital upper limb deficiencies are associated with additional birth defects in two thirds of cases. These children, especially children with radial ray deficiency, have a high perinatal mortality rate. When divided into subgroups using IFSSH classification, differences emerge in both associated anomalies and mortality.

Split hand‐foot malformation, tetralogy of Fallot, mental retardation and a 1 Mb 19p deletion—evidence for further heterogeneity?

Congenital limb malformations are the second most common birth defects observed in infants. Split hand foot malformation (SHFM), also known as central ray deficiency, ectrodactyly and cleft hand/foot, occurs isolated or in combination with other malformations. We report on a male patient with SHFM, tetralogy of Fallot and a clinical phenotype suggestive of Angelman syndrome. Using array based genome analysis (3K BACs and 500K SNPs), we identified a de novo deletion of chromosome 19p13.11, confirmed by Fluorescent In Situ Hybridization analysis. The deletion is 0.99 Mb in size and contains 28 genes. The proximal breakpoint of the deletion is in EPS15L1, which may be involved in vertebrate limb development. Subsequent screening of 21 syndromic and nonsyndromic SHFM patients (TP73L mutation negative) for rearrangements using Multiplex Ligation-dependent Probe Amplification did not detect other deletions or duplications in chromosome 19. These findings suggest that our patient may have a new contiguous gene syndrome and indicates that SHFM is genetically more heterogeneous than currently known.

Bifid Nose With Cleft Hand Deformity

The simultaneous presentation of bifid nose and bilateral cleft hand defects has not previously been described. Already rare in presentation, the bifid nose continues to challenge reconstructive surgeons as to optimal management. Although cleft defects of the hand may be somewhat more common, the multitude of surgical approaches available to correct these deformities is a testament to their lack of optimal effect. From an etiologic standpoint, it would seem that facial and hand clefting might share little in common. However, our recent experience with managing these coincident deformities in a newborn prompted a re-evaluation of material related to this exceedingly rare event. Here, we present a 4-month-old female infant with a coincident bifid nose and central ray deficiency.

Central Ray Deficiency: Subjective and Objective Outcome of Cleft Reconstruction

To assess the long-term subjective and objective outcome of cleft reconstruction in patients with central ray deficiency. Twelve patients with 16 central ray deficiency hands were included. Each hand had been treated with cleft reconstruction using soft tissue and/or bony procedures. A surgeon and parent assessed the subjective outcome using a visual analog scale to compare preoperative and postoperative appearance. Objective outcome was assessed with a clinical examination for digital range of motion and with a radiographic examination for preoperative and postoperative divergence angles of the index finger and ring finger metacarpals and phalanges. The surgeon's visual analog scale score significantly increased from 4 to 7. Nine parents were very satisfied, 4 were satisfied, and 3 were somewhat satisfied with hand appearance. A ring finger proximal interphalangeal joint flexion contracture averaging 31 degrees was the most notable clinical finding. The metacarpal divergence angle significantly improved from 33 degrees to 12 degrees , and the phalangeal divergence angle significantly improved from 38 degrees to 12 degrees . Cleft reconstruction improves hand appearance in patients with central deficiency. A new technique of quantifying the radiographic divergence of the border rays of the cleft demonstrates improved alignment at long-term follow-up. Therapeutic IV.

The association of split hand foot malformation (SHFM) and congenital heart defects

Split hand foot malformation (SHFM) (cleft hand, central ray deficiency) is a highly variable malformation that shows genetic heterogeneity with at least five loci mapped to date. SHFM occurs as an isolated finding or in association with other anomalies, including congenital heart defects (CHDs). In total 48 SHFM1, 52 SHFM3, 48 SHFM4, 21 SHFM5, and four chromosome 8 patients were evaluated. In addition, we performed a literature review to identify "unmapped" SHFM patients with CHD to evaluate the various etiologies of this combination of findings. The London Dysmorphology Database also served as a resource to identify syndromes with this combination of phenotypic findings. Only patients presenting with both SHFM and CHD were included in the analysis. Classification of CHD among mapped and unmapped SHFM patients was performed utilizing the revised Clark classification. A closer inspection of the types of CHD found in this patient group was performed in order to investigate possible pathogenetic mechanisms. CHDs were found in 10% of SHFM1 patients, 47% of SHFM5 patients, but were not reported in SHFM2, SHFM4 patients, or patients mapped to chromosome 8. Forty-two syndromic cases and 15 cases of unrecognized syndromes were identified. The higher frequency of heart defects seen in SHFM1 and SHFM5 of the mapped patient group raises the question as to whether common mechanisms/genetic players are involved. Candidate genes for SHFM1 and SHFM5 include members of the DLX homeobox gene family.

Genotype–phenotype correlations in mapped split hand foot malformation (SHFM) patients

Split hand foot malformation (SHFM) also known as central ray deficiency, ectrodactyly and cleft hand/foot, is one of the most complex of limb malformations. SHFM can occur as an isolated malformation or in association with other malformations, as in the ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome and other autosomal dominant conditions with long bone involvement, all showing variable expressivity and reduced penetrance. The deficiency in SHFM patients can also be accompanied by other distal limb anomalies including polydactyly and/or syndactyly. This variability causes the phenotypic classification of SHFM to be far from straightforward and genetic heterogeneity, with at least five loci identified to date, further complicates management of affected patients and their families. Although genotypic-phenotypic correlations have been proposed at the molecular level for SHFM4 patients who have mutations in the P63 gene, phenotypic correlations at the chromosomal level have not been thoroughly documented. Using descriptive epidemiology, Chi square and discriminant function analyses, our laboratory has identified phenotypic patterns associated with the mapped genetic SHFM loci. These findings can assist in classification, provide insight into responsible developmental genes and assist in directing mapping efforts and targeted genetic testing, resulting in more accurate information for family members in the clinical setting. Comparison with relevant animal models is discussed.

Clinical and epidemiological findings in patients with central ray deficiency: Split hand foot malformation (SHFM) in Manitoba, Canada

We conducted a clinical population study to examine the incidence and epidemiology of split hand foot-malformation (SHFM) in Manitoba from 1957 to 2003. The total number of births during this period was 850,742. Forty-three patients with SHFM were identified, resulting in an incidence of 1 in 19,784 births. Most patients were ascertained through referrals to the Section of Genetics and Metabolism at the Children's Hospital, Winnipeg, Manitoba. Overall, 22 (51.2%) of affected individuals were females and 21 (48.8%) were male. The left upper limb (LUL) was the most frequently affected, (in 46.5% of patients). The right hand was involved in 39.5%. In 4 patients (9.3%) all four limbs were affected. SHFM is classified as a failure of formation of parts according to the International Federation of Surgical Societies of the Hand (IFSSH) and has also been categorized as Typical or Atypical. Individuals in the Manitoba cohort were classified into two main categories: Typical (29 cases) and Atypical (3 cases). However, 11 patients were not easily placed into either group and comprised a distinct category termed "difficult to classify." Patients in the three groups were then further subdivided depending on whether or not they had additional congenital anomalies. These complex patients included those with single gene disorders in which SHFM has been reported (e.g., ectodermal dysplasia Ectrodactyly Clefting (EEC), tibial aplasia with SHFM, fibular aplasia with SHFM), as well as those with other recognized or unknown patterns of anomalies. Two had deletions involving 9q and 5p respectively. Unlike some other studies, we did not find an excess of males or right-sided defects and only two of the cases--two sisters--were related.

A DNA duplication at chromosome 10q24.3 is associated with split-hand split-foot malformation in a Chinese family

To identify the disease-causing genetic alteration of split-hand/split-foot malformation (SHFM) in a Chinese family. Three of the 5 affected individuals from a four-generation Chinese SHFM family were examined physically and radiologically. Peripheral blood samples were collected from Digital photographs of the malformed hands and feet were taken. Peripheral blood samples were collected from 2 affected individuals, and lymphocytes were isolated to undergo high resolution G-banding. Genomic DNA was extracted from the whole blood samples of 4 available family members, including the 3 affected individuals. All 16 exons and their flanking intronic sequences of the TP63 gene were amplified using polymerase chain reaction (PCR) and sequenced directly. Microsatellite markers from the five SHFM loci were analyzed in the available family members by PCR, polyacrylamide gel electrophoresis and silver staining. For semi-quantitative determination of the allele copy number, the polymorphic PCR-amplified fragments representing genetic markers from the SHFM3 locus at chromosome 10q24.3 were sequenced in the affected individuals using normal individuals with identical genotypes as controls. All 3 existing affected individuals showed absence of 3 radial fingers, 2 affected individuals had a deep central cleft and central ray deficiency in the feet, and 1 affected individual had a fibular monodactyli, all limb malformations being bilateral and consistent with the phenotype of typical SHFM. G-banding showed normal karyotypes in the 3 affected individuals and no visible cytogenetic abnormality was found. Moreover, no mutation was identified in the TP63 gene. While no haplotype sharing was observed in the markers from loci SHFM1, SHFM4 and SHFM5, potential haplotype sharing was detected in the markers from two loci, SHFM2 and SHFM3, indicating possible causative mutation at SHFM2 or SHFM3. Furthermore, obviously biased silver density toward the allele fragments shared by the 3 affected individuals was observed in the markers from the SHFM3 locus. Comparative sequencing showed roughly one-fold increase of fluorescent signal of the shared fragments in the affected individuals. These results suggested a large-scale DNA duplication within the SHFM3 locus. A large-scale DNA duplication within the SHFM3 locus at chromosome 10q24.3 has been identified as the pathogenic genetic change in Chinese patients with SHFM.

Central ray deficiency of the hand. Operative treatment and results.

Fifty nine hands were studied in 42 patients with central ray deficiency. Thirty one of the hands were treated surgically and this enabled analysis of the soft tissue abnormalities that were not constant throughout the group, requiring a sub-division of the usual classification. Four major surgical procedures and two minor procedures are described and the importance of creating a substitute for the deficient transverse intermetacarpal ligament and correction of any intrinsic muscle imbalance is emphasized. Of the 31 hands treated all but three gained useful grip and all but two gained useful pinch grip and a satisfactory range of motion. From the cosmetic standpoint all were satisfactory except for one case with a hypertrophic scar and six cases with overlapping of the fingers when grasping.

Congenital central ray deficiency in the hand—A survey of 59 cases and subclassification

Congenital central ray deficiency in the hand—A survey of 59 cases and subclassification

Congenital central ray deficiency in the hand—A survey of 59 cases and subclassification

Eighty-nine hands were studied in 59 patients with central ray deficiency. A subclassification into two subgroups was established based on the clinical and radiological findings-subgroup I: typical type and subgroup II: (atypical type) with type a, syndactylous type, and type b, polydactylous type. In subgroup I, the sequential severity of deficiency ranged from a partial defect of phalanges of the middle finger to a monodigit hand. The central digital elements were fused to adjacent digital rays in subgroup II-type a. Supernumerary bony elements were seen in subgroup II-type b. The close relationship between central ray deficiency, syndactyly, and polydactyly was discussed from the standpoint of development of the hand. The classification of central ray deficiency into the longitudinal deficiency category of the International Classification of Congenital Limb Malformations was recommended.