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Biomedical subjects

Martin H Reed

Publications and source records attributed to Martin H Reed.

8 recordsLinked to original sources
PubMed2007

Triphalangeal thumb in association with split hand/foot: a phenotypic marker for SHFM3?

BACKGROUND: At least five distinct loci have been implicated in split hand foot malformation (SHFM). Establishing genotype/phenotype correlations at the chromosomal level may elucidate responsible developmental genes and improve patient management. In our analysis of previously published genetically mapped SHFM cases, preaxial hand involvement was a significant discriminating variable, most commonly seen at the SHFM3 locus (OMIM 600095) at 10q24. Of the 47 SHFM3 patients analyzed, 15 (31.9%) had triphalangeal thumb (TPT), a limb finding not reported at any other locus. METHODS: The association of TPT/split foot, in particular, prompted us to review the literature for similar cases. RESULTS: We ascertained a number of unmapped familial and sporadic cases with TPT/split foot, including a group of patients with triphalangeal thumb-brachyectrodactyly syndrome. Certain trends were similar in both SHFM3 and these unmapped literature cases. With respect to gender, 7/12 (58%) of mapped SHFM3 cases with TPT/split foot were male whereas 5/12 (42%) were female, compared with 22/50 (44%) males and 28/50 (56%) females among unmapped cases (P=0.3715). Individuals in both groups usually had bilateral involvement, with 67 and 60% showing bilateral TPT among mapped and literature cases, respectively (P=0.6714). Bilateral involvement of the feet was even more striking (83% of SHFM3 patients and 96% of literature cases; P=0.0808). CONCLUSIONS: Patients with TPT/split foot may in fact represent SHFM3 cases and should be evaluated for genomic rearrangements at 10q24. TPT may be identified only by radiographic analysis, emphasizing the importance of imaging these patients and their family members.

F-Box Proteins↗
PubMed2006

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.

Cohort Studies↗
PubMed2006

Clinical decision rules in radiology.

Clinical decision rules to guide physicians in the appropriate use of diagnostic imaging studies need to be developed, in part, to control the overutilization of imaging studies. These rules need to be evidence based. Randomized control trials can be designed to assess the value of imaging studies and interventional procedures at levels five and six, patient outcome and societal efficacies, in Fryback and Thornbury's hierarchical model of efficacy. Results of these trials can be used to develop clinical decision rules. However, the efficacy of most diagnostic imaging studies can be assessed better at levels three and four, diagnostic thinking and therapeutic efficacies. Studies can be designed to determine clinical situations in which imaging studies will be of no value or to determine clinical criteria for the use of imaging studies. Systematic reviews of the literature and other techniques of analysis of evidence, such as decision trees, also can be used to develop evidence-based clinical decision rules for the use of diagnostic imaging procedures.

Canada↗
PubMed2004

The duplicated longitudinal epiphysis or "kissing delta phalanx": evolution and variation in three different disorders.

BACKGROUND: The delta phalanx, also known as the delta bone, or longitudinal epiphyseal bracket (LEB), has been described in a variety of syndromes and dysplasias. However, the "kissing delta phalanx" is not as well recognized in the literature; it consists of a duplicated longitudinal bracketed epiphysis, or a complex of two adjacent delta bones, with opposing convex portions facing each other. Magnetic resonance imaging of the kissing delta phalanx has not been previously described. OBJECTIVE: To describe the evolution, variation and associated osseous anomalies of the kissing delta phalanx in three patients with distinct distal limb malformations using both plain films and magnetic resonance imaging. RESULTS: Patient 1 had Rubinstein-Taybi syndrome and, in addition to a kissing delta phalanx in both feet, had corresponding delta metatarsals (MT1). Patient 2 had Cenani-Lenz syndactyly with distinct variation of the kissing delta phalanx in each hand. He had a disorganized appearance to the phalanges, metacarpal fusions and carpal coalitions. Patient 3 had an isolated oligosyndactyly of the left hand with metacarpal fusions and carpal coalitions. All three patients were followed over time. We describe two types of kissing delta phalanges: separated (without fusion of the corresponding epiphyseal brackets) and nonseparated (with fusion of the corresponding epiphyseal brackets). Both types can be seen in the same patient and are a reflection of the relative degree of segmentation of the two delta bones. CONCLUSION: The appearance of this rare osseous abnormality changes with time and can be found in a limited number of uncommon disorders. It can also be found in association with other osseous anomalies of the distal extremities; therefore magnetic resonance imaging early in life can greatly assist in surgical planning. Recognition of the kissing delta phalanx may be an important radiological clue to diagnosis of these rare disorders.

Child, Preschool↗
PubMed2004

Cenani-Lenz syndactyly in a patient with features of Kabuki syndrome.

We report a 5 9/12-year-old male with Cenani-Lenz syndactyly (CLS). He presented with three malformed digits on each hand and bilateral 2,3 partial cutaneous toe syndactyly. The expression of this presumed autosomal recessive disorder is variable and has been confused with split hand foot malformation (SHFM). Not all CLS patients show the typical 'spoon hand' configuration originally described. Affected CLS patients show a disorganized appearance of the phalanges with some degree of syndactyly/oligodactyly, in addition to metacarpal and carpal fusions. Radioulnar synostosis may be present. Cases lacking radioulnar synostosis may show proximal dislocation of the radial heads. The distal limb anomalies seen in our patient resemble other reported CLS patients. Radiographic evaluation showed a disorganized appearance of the phalanges, a 'kissing delta phalanx' of one proximal phalanx, metacarpal fusions, carpal coalitions and posterior subluxation of the radial heads. Clinical examination revealed features suggestive of Kabuki syndrome including large, prominent ears, sparse, medially flared and arched eyebrows, wide palpebral fissures, long eyelashes, and oligodontia with flat head 'screwdriver-shaped' incisors, in addition to persistent finger and thumb-tip pads. The faces of CLS patients are rarely shown or described. However, some patients in published reports have large, prominent ears. A recent report suggested midfacial dysmorphism in two patients with CLS (). Although the findings of CLS with features of Kabuki syndrome in our patient may be coincidental, the faces of CLS patients need to be carefully evaluated and described to determine if there is a distinctive accompanying facial phenotype.

Bone and Bones↗
PubMed2002

Fibular aplasia with ectrodactyly.

Fibular aplasia with split hand/foot or other defects of the central axis is a rare disorder that shares several characteristics with the better known tibial aplasia-ectrodactyly syndrome. They appear to be inherited in an autosomal dominant fashion. In both, however, the phenotype is markedly variable, penetrance is reduced, and apparently sporadic cases are relatively frequent. We report a new case of this disorder and review the clinical and demographic findings in 47 others identified from the literature or other sources. A key observation was that the sex ratio is biased toward males, especially in apparently sporadic cases. This male bias is largely explained by a lower penetrance rate in women. Both affected males and females had affected children, but the risk to offspring was higher when the mother carried the gene, in keeping with a mixed model for genetic susceptibility, i.e., the penetrance of the major predisposing gene is acting against a multifactorially determined level of liability. Given the high degree of nonpenetrance and very variable expressivity, counseling with respect to recurrence risk is problematic and will likely remain so, even when the major predisposing gene is identified.

Abnormalities, Multiple↗
PubMed2002

Pediatric postprimary pulmonary tuberculosis.

BACKGROUND: Postprimary pulmonary tuberculosis (TB) is not commonly seen in children. OBJECTIVE: The purpose of this study was to determine the radiographic findings and patient characteristics of pediatric postprimary pulmonary TB. MATERIALS AND METHODS: We reviewed the clinical charts and chest radiographs in six patients. RESULTS: The radiographic findings of pediatric postprimary pulmonary TB include upper-lobe consolidation and cavitation, multifocal ill-defined airspace opacities, evidence of prior pulmonary TB, and apical pleural thickening. Pleural effusions and lymphadenopathy are not commonly present. Although postprimary disease typically does not affect young children, five of the children in this series were less than ten years of age at the time of presentation. CONCLUSION: The possibility of postprimary TB should be considered in pediatric patients at risk for this disease who present with upper-lobe pulmonary consolidation and cavitation. These patients are highly infectious and early recognition and treatment can limit transmission of TB.

Adolescent↗