Congenital convex pes valgus (congenital vertical talus) is a rare condition. We reviewed ten feet in seven patients who had had surgical correction. All had been operated on by the senior author (JF) and the same surgical technique was used throughout, incorporating transfer of the tibialis anterior to the neck of the talus. The mean age at surgery was 31 months and the mean follow-up was nine years (6 to 14). All patients completed a questionnaire and had clinical, radiological and photographic evaluation performed by an independent examiner. None had required further surgery. All but one were satisfied with the result, and had no functional limitations. They all wore normal shoes. The mean ankle dorsiflexion was 17 degrees and plantar flexion 21 degrees. The mean arc of subtalar motion was 27 degrees. All radiological parameters measured were within the normal range, although irregularity of the talonavicular joint was common. No avascular necrosis of the body of the talus was seen. We conclude that the medium-term results of this procedure are very satisfactory. (+info)
Fine mapping of the split-hand/split-foot locus (SHFM3) at 10q24: evidence for anticipation and segregation distortion.
Split-hand/split-foot malformation (SHFM, ectrodactyly, or lobster-claw deformity) is a human limb malformation characterized by aberrant development of central digital rays with absence of fingers and toes, a deep median cleft, and fusion of remaining digits. SHFM is clinically heterogeneous, presenting both in an isolated form and in combination with additional abnormalities affecting the tibia and/or other organ systems, including the genitourinary, craniofacial, and ectodermal structures. Three SHFM disease loci have been genetically mapped to chromosomes 7q21 (SHFM1), Xq26 (SHFM2), and 10q24 (SHFM3). We mapped data from a large Turkish family with isolated SHFM to chromosome 10q24 and have narrowed the SHFM3 region from 9 cM to an approximately 2-cM critical interval between genetic markers D10S1147 and D10S1240. In several instances we found evidence for a more severe phenotype in offspring of a mildly affected parent, suggesting anticipation. Finally, data from this family, combined with those from six other pedigrees, mapped to 10q24, demonstrate biased transmission of SHFM3 alleles from affected fathers to offspring. The degree of this segregation distortion is obvious in male offspring and is possibly of the same magnitude for female offspring. (+info)
Musculoskeletal conditions in children attending two Togolese hospitals.
OBJECTIVE: A retrospective study was conducted in order to point out the different kinds of musculoskeletal conditions observed in children attending two Togolese hospitals. RESULTS: A total of 434 (242 females, 192 males) of the 29 620 children examined (1.5%) were suffering from these conditions. Probable joint and bone infections (187 patients, 43%), limb deformities (106 patients, 24%), osteochondrosis (60 patients, 14%) and vaso-occlusive crisis due to haemoglobinopathies (29 patients, 7%) were the main conditions observed. Osteomyelitis observed in 128 patients affected the humerus (25 patients), radius (10 patients), femur (68 patients), tibia (15 patients), fibula (five patients), and both tibia and fibula (five patients). Probably, infectious arthritis seen in 30 patients affected mainly the hip (11 patients) and the knee (13 patients). In the spine, infection affected the midthoracic and upper lumbar areas. Underdevelopment, sickle cell anaemia and sickle cell haemoglobin C disease were the main risk factors in determining susceptibility to infections. Vaso-occlusive crises were due to sickle cell anaemia (11 patients) and sickle cell haemoglobin C disease (18 patients). Osteochondrosis seen in 60 patients free from haemoglobinopathy involved the spine (Scheuermann's disease, 38 patients) and the hip (Legg-Calve-Perthes disease, 22 patients). Limb deformities were observed in the knee (varus and valgus deformities in 64 patients) and the foot (talipes varus equin in 40 patients). CONCLUSION: This study's findings, which require further confirmation, suggest some conclusions. Scheuermann's disease can explain in part the degenerative disc conditions observed in African adults. Valgus and varus deformities play an important role in the development of knee osteoarthritis in Black Africa. An African child with joint or bone pain should be investigated for sickle cell anaemia. In the future, improved lifestyle and better health care will be essential to reduce bone and joint infections, and allow refined diagnosis of connective tissue diseases now probably underestimated in African children. (+info)
Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome.
EEC syndrome is an autosomal dominant disorder characterized by ectrodactyly, ectodermal dysplasia, and facial clefts. We have mapped the genetic defect in several EEC syndrome families to a region of chromosome 3q27 previously implicated in the EEC-like disorder, limb mammary syndrome (LMS). Analysis of the p63 gene, a homolog of p53 located in the critical LMS/EEC interval, revealed heterozygous mutations in nine unrelated EEC families. Eight mutations result in amino acid substitutions that are predicted to abolish the DNA binding capacity of p63. The ninth is a frameshift mutation that affects the p63alpha, but not p63beta and p63gamma isotypes. Transactivation studies with these mutant p63 isotypes provide a molecular explanation for the dominant character of p63 mutations in EEC syndrome. (+info)
Club foot, an adverse outcome of early amniocentesis: disruption or deformation? CEMAT. Canadian Early and Mid-Trimester Amniocentesis Trial.
An association between the occurrence of club foot and early amniocentesis has been reported. The largest of these randomised studies was the Canadian Early and Mid-Trimester Amniocentesis Trial. Data describing the neonatal outcome, focusing on this association, are presented. Possible mechanisms for the association and the implications for the development of club foot are discussed. (+info)
Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome.
Hand-foot-genital syndrome (HFGS) is a rare, dominantly inherited condition affecting the distal limbs and genitourinary tract. A nonsense mutation in the homeobox of HOXA13 has been identified in one affected family, making HFGS the second human syndrome shown to be caused by a HOX gene mutation. We have therefore examined HOXA13 in two new and four previously reported families with features of HFGS. In families 1, 2, and 3, nonsense mutations truncating the encoded protein N-terminal to or within the homeodomain produce typical limb and genitourinary abnormalities; in family 4, an expansion of an N-terminal polyalanine tract produces a similar phenotype; in family 5, a missense mutation, which alters an invariant domain, produces an exceptionally severe limb phenotype; and in family 6, in which limb abnormalities were atypical, no HOXA13 mutation could be detected. Mutations in HOXA13 can therefore cause more-severe limb abnormalities than previously suspected and may act by more than one mechanism. (+info)
Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27.
Split-hand/split-foot malformation (SHFM), a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals, is phenotypically analogous to the naturally occurring murine Dactylaplasia mutant (Dac). Results of recent studies have shown that, in heterozygous Dac embryos, the central segment of the apical ectodermal ridge (AER) degenerates, leaving the anterior and posterior segments intact; this finding suggests that localized failure of ridge maintenance activity is the fundamental developmental defect in Dac and, by inference, in SHFM. Results of gene-targeting studies have demonstrated that p63, a homologue of the cell-cycle regulator TP53, plays a critically important role in regulation of the formation and differentiation of the AER. Two missense mutations, 724A-->G, which predicts amino acid substitution K194E, and 982T-->C, which predicts amino acid substitution R280C, were identified in exons 5 and 7, respectively, of the p63 gene in two families with SHFM. Two additional mutations (279R-->H and 304R-->Q) were identified in families with EEC (ectrodactyly, ectodermal dysplasia, and facial cleft) syndrome. All four mutations are found in exons that fall within the DNA-binding domain of p63. The two amino acids mutated in the families with SHFM appear to be primarily involved in maintenance of the overall structure of the domain, in contrast to the p63 mutations responsible for EEC syndrome, which reside in amino acid residues that directly interact with the DNA. (+info)
Delineation of a complex karyotypic rearrangement by microdissection and CGH in a family affected with split foot.
We report on a male patient and members of his family with additional material in chromosome 3. This derivative chromosome 3 was transmitted from his mother who had a complex rearrangement between chromosomes 2, 3, and 7. It was possible to delineate her chromosomal rearrangement by microdissection and reverse painting and to exclude these aberrations from being responsible for neonatal deaths and several abortions in this family. Two members of this family suffer from ectrodactyly or split hand/foot malformations (SHFM) of the feet which possibly correlates with the derivative chromosome 7 containing a breakpoint in the SHFM1 critical region involving several homeobox genes. (+info)