Brachydactylia with symphalangism,probably autosomal recessive

Summary Association, in one patient, of the following malformations: brachydactylia of all segments but terminal phalanges; proximal symphalangism of many fingers and toes; abnormalities of carpal and tarsal bones; partial duplication of both big toes; mild hypertelorism. Genetic transmission seems to be recessive autosomal.     

Analysis of the Ft. Laurens, Ohio, skeletal sample

This report describes the analysis of the Colonial Period (1779) skeletal sample (N = 21) from Ft. Laurens, Ohio. The determination of age, sex, and ancestry reveals a relatively young sample (mean = 23.5 years) of males of northern European ancestry. Morphometric analysis shows little difference in cranial and postcranial size and shape measures between this sample and a modern sample of Euro-Americans and previously described Colonial to Civil War samples. The analysis of skeletal pathologies indicates that the individuals in the Ft. Laurens sample were active and subject to at least moderate amounts of stress. Dental pathologies were frequent, with a caries incidence higher than would be expected for a Euro-American Colonial period sample. Numerous traumatic pathologies, in the form of cut and hack marks, are present in this sample. These marks were expected, since historical records indicate a violent death and scalping for virtually all individuals lost at Ft. Laurens. The results of the various analyses are interpreted in light of available historical information. In most cases the results are consistent with historically based expectations.     

A New Surgical Technique for Polysyndactyly of the Toes without Skin Graft

Reconstruction for polysyndactyly of the toes aims at cosmetic improvement. A previous method that uses a skin graft has inherent disadvantages of mismatched pigmentation between the graft and the surrounding skin and scar formation at the donor site. The authors' new improved surgical technique for the treatment of polysyndactyly of the toes does not require a skin graft and therefore avoids these problems. The authors designed a subcutaneous flap from the distal portion of a rectangular flap of skin from the dorsal side of the interdigital webbing and moved the former flap to the sidewall of the base of a toe. Both flaps are the same size; therefore, an interdigital space had to be of sufficient size to accommodate both of them. To ensure an adequate blood supply to the flap, careful handling of the subcutaneous flap is essential for success. This procedure can apply to polysyndactyly of the fourth, fifth, and sixth toes when the fourth and fifth toes adhere over the distal side of the distal interphalangeal joint and when the skin on the dorsal side of the fifth toe, regarded as the excessive one, is at lease twice the size of the dorsal rectangular flap. Ten patients with polysyndactyly of the toe were treated with this method. Aesthetically good results were obtained.     

Secondary centers of ossification of the human toes: exceptional polymorphism and evolutionary perspectives

As great morphological variability characterizes the phalanges of the human toes in adults, we hypothesized for a possible variability in the presence or absence of their secondary (= epiphyseal) centers of ossification linked to the unique morphology of the human foot within primates. The aim of this study was thus to provide original and detailed data on the occurrence of these centers. Classically, the big toe or hallux (I) presents two secondary centers and the lateral toes (II-V) three centers, and consequently the five toes present a total of 14 secondary centers. The material studied consisted of 261 foot radiographs from 261 young individuals of European origin (202 males and 59 females; 6-16 years). The presence (or absence) of the secondary centers of the phalanges of the toes was assessed for each foot. Feet presenting a biphalangeal variant in one or more lateral toes were studied separately. The theoretical possibilities of association of the three secondary centers in a given lateral toe (II-V) are eight in number; these eight patterns were studied and coded in the present study by types A-H. An exceptional variability in the occurrence of the secondary centers in lateral toes (II-V) was observed, and the classic pattern of phalangeal ossification was never observed. The absence of one or more secondary centers seems to be observed only in the human species, and we suggest that this could be a derived pattern specific to the human species, i.e., autapomorphic pattern. These results are of interest in the characterization and understanding of the reduction in size of the lateral toes which characterizes the specific evolution of the human foot.     

Genetic ancestry,population sub-structure,and cardiovascular disease-related traits among African-American participants in the CARDIA Study

African-American populations are genetically admixed. Studies performed among unrelated individuals from ethnically admixed populations may be both vulnerable to confounding by population stratification, but offer an opportunity for efficiently mapping complex traits through admixture linkage disequilibrium. By typing 42 ancestry-informative markers and estimating genetic ancestry, we assessed genetic admixture and heterogeneity among African-American participants in the Coronary Artery Risk Development in Young Adults (CARDIA) cohort. We also assessed associations between individual genetic ancestry and several quantitative and binary traits related to cardiovascular risk. We found evidence of population sub-structure and excess inter-marker linkage disequilibrium, consistent with recent admixture. The estimated group admixture proportions were 78.1% African and 22.9% European, but differed according to geographic region. In multiple regression models, African ancestry was significantly associated with decreased total cholesterol, decreased LDL-cholesterol, and decreased triglycerides, and also with increased risk of insulin resistance. These observed associations between African ancestry and several lipid traits are consistent with the general tendency of individuals of African descent to have healthier lipid profiles compared to European-Americans. There was no association between genetic ancestry and hypertension, BMI, waist circumference, CRP level, or coronary artery calcification. These results demonstrate the potential for confounding of genetic associations with some cardiovascular disease-related traits in large studies involving US African-Americans.     

Polydactyly of the foot: an analysis of 265 cases and a morphological classification.

Three hundred and thirty feet in 265 patients with polydactyly of the foot were classified on the basis of ray involvement and the level of duplication. Anatomic differences in bony structures according to x-ray and operative findings, external appearance of involved digits, associated anomalies, and familial incidence were studied. In medial-ray polydactyly, bilateral occurrence was common, and a higher frequency of associated anomalies was detected. Each involved foot with even the same level of duplication usually had a different morphologic pattern. In central-ray polydactyly, all patients except one had duplications of the second toe, commonly with unilateral involvement. Both components were underdeveloped, with delay in appearance of ossification areas. In two patients, each member of duplication had syndactyly with the neighboring toe, resembling the pattern of polysyndactyly-cleft hand complex. Lateral-ray polydactyl was classified into two new major groups based on ossification pattern and bony alignment: (1) fifty-ray duplication, referring to the medially duplicated supernumerary fifth toe, and (2) sixth-ray duplication, referring to the laterally duplicated supernumerary sixth toe. Fifth-ray duplication was much more frequent than sixth-ray duplication in the Japanese population. Many differences were noted between the two groups of lateral polydactyly. Syndactyly between the fourth and fifth toes was associated only with fifty-ray duplication. Ulnar polydactyly was associated only with sixth-ray duplication. In lateral polydactyly, every patient with bilaterally involved feet had similar groups of polydactyly bilaterally. All the patients in the same family also had similar groups of anomalies. These facts suggest independent etiologic mechanisms for each.     

Biphalangia of the lateral toes. A study on the incidence in a Swedish population together with some observations on digital sesamoid bones in the foot

The incidence of a two-phalangeal fifth toe in a Swedish population has been investigated in a series of 496 persons. The incidence is about 35% without significant differences between sexes or between age groups. The figure coincides with that found in studies on German, English and Danish populations but differs from that of American and that of Japanese populations. It is concluded that the cause of this anomaly is genetic and that the two-phalangeal fifth toe may be an important parameter in racial studies and for the identification of an individual. Each phalanx in the two-phalangeal toe is on the average almost 5 mm longer than its counterpart in the three-phalangeal variety, resulting in the paradoxic fact that the three-phalangeal toe is shorter on the average than the two-phalangeal one. The numbers of sesamoid bones in various locations of the toes are presented.     

Distal symphalangism: a report of two families

This study describes distal symphalangism in 36 individuals in two families, one of which is the largest pedigree of this rare defect yet documented. Distal symphalangism is ankylosis or rigidity of the distal interphalangeal joints of the hands and/or feet. The findings of this report substantiate the mutation as an autosomal dominant phenotype. Several manifestations of distal symphalangism were observed, including the lack of cutaneous creases over affected joints, brachydactyly, fourth-finger hypophalangism, absent nails, and rudimentary nails. Variability ranged from just toes affected, to a single finger affected, to all fingers and all lesser toes affected. The most common expression of the mutant gene was rigid index fingers. Craniosynostosis, premature closure of the sutures of the skull, was encountered twice in the larger of the two families. It is a possible pleiotropic effect of distal symphalangism.     

Cultural patterns of trauma among 19th-century-born males in cadaver collections

Comprehending violence among bioarchaeological and historical groups is a topic of recent interest among biological anthropologists. This research examines trauma among African American and Euro-American males of low socioeconomic status born between 1825 and 1877. A total of 651 male skeletons from the Cobb, Terry, and Hamann-Todd anatomical collections were macroscopically evaluated for skeletal trauma, based on the presence of fractures and weapon-related wounds, and statistically analyzed according to ancestry, birth (Antebellum, Civil War, Reconstruction), combined ancestry - birth, and collection cohorts. Results indicated that African Americans and Euro-Americans expressed ethnic differences in regard to interpersonal violence. To interpret these disparities, documentary data were used to reconstruct the socioeconomic and cultural environment of these individuals. This research emphasizes the importance of evaluating skeletal data within the context of class, culture, and environment so that behavioral patterns observed in the skeleton can be better understood.     

An Early Pleistocene human pedal phalanx from Swartkrans,SKX 16699, and the antiquity of the human lateral forefoot

In order to assess the antiquity of derived human lateral (lesser) toe morphology, the SKX 16699 Early Pleistocene pedal proximal phalanx from Swartkrans (South Africa) was compared to samples of pedal phalanges attributed to Pliocene/Pleistocene australopithecines, Homo naledi and Late Pleistocene Homo. In contrast to australopith lateral phalanges, the SKX 16699 phalanx exhibits an absolutely (and probably relatively) short length, limited plantar diaphyseal curvature, proximal-to-midshaft and mid-dorsoplantar flexor sheath insertions, and a marked proximodorsal orientation of the metatarsal facet. SKX 16699 is intermediate between the australopith phalanges and later Homo ones in its modest dorsal diaphyseal curvature and mid-dorsoplantar metatarsophalangeal collateral ligament insertion areas. Its diaphyseal robustness is similar to that of Homo phalanges, but overlaps the range of later australopith ones. This combination of features and the close morphological affinities of SKX 16699 to later Homo proximal pedal phalanges suggest the emergence of a distinctly human lateral forefoot by the initial Early Pleistocene.     

Molecular patterns and sequence polymorphisms in the red and green visual pigment genes of Japanese men

The red-green pigment gene arrays of 203 (101 from a previous study and 102 from this study) randomly selected men of Japanese ancestry from the Seattle area were screened for the abnormal molecular patterns (deletions and red/green or green/red hybrid genes) that are usually associated with defective color vision. Such molecular patterns were found in approximately 5% of these individuals, which is equivalent to the frequency of phenotypic color vision defects in Japanese males in Japan. Thus, the majority of hybrid genes carried by Japanese males appear to be associated with defective color vision. In contrast, the frequency of hybrid genes among Caucasians and African-Americans is approximately two and five times the frequency of color vision defects in these two ethnic groups, respectively. The coding sequences of 50 males of Japanese ancestry were determined. All the polymorphisms in the red and green pigment genes that were detected in the Japanese sample had been observed in Caucasians and African-Americans. The same polymorphisms of the red pigment gene were present in the green pigment gene, suggesting that gene conversion contributes to sequence homogenization between these pigment genes. As is the case for Caucasians, exon 3 of the red and green pigment genes was observed to be a hot spot for recombination and gene conversion. Fewer polymorphic sites (4 vs 11) and haplotypes (5 vs 14) of the red pigment gene were observed in Japanese than in Caucasians. The Japanese population was more uniform with respect to the red pigment gene, with 70% of individuals having the same haplotype, as compared with the 43% for the Caucasian population. This difference was largely due to the lower degree of polymorphism at position 180 of the red pigment gene in Japanese (84% Ser and 16% Ala vs 62% Ser and 38% Ala.) The number of polymorphic sites and haplotypes in the green pigment gene was similar in the two populations. Nevertheless, the Japanese population was more uniform with 65% having the same haplotype. The difference in the frequency of alleles at position 283 accounted for this difference in haplotype distribution.     

Toe and plantar dermatoglyphics in adult American Caucasians

The scarcity of information on control data of toe and plantar dermatoglyphics led us to undertake this study of adult American Caucasians. Toe and sole prints of 168 male and 83 female participants of the Baltimore Longitudinal Study of Aging were analyzed. Toe pattern frequencies demonstrate that fibular loops are the most prevalent pattern on the toes in both males and females. Pattern distribution by digit shows that arches are most often located on the fifth toe while whorls are found with greatest frequency on the third toe. Plantar pattern frequencies indicate that the most common pattern found in the hallucal area is the distal loop. Open fields are frequently found in the II and IV interdigital areas while distal loops are prevalent in the III area. These results are compared to the finger and palmar patterns of the same individuals. The distribution of patterns on the toes and fingers of the same individuals appear to be quite different. Population comparisons did not demonstrate a clear racial difference in the toe pattern frequencies or in the plantar areas.     

Effects on toes from prenatal exposure to anticonvulsants

BACKGROUND: Changes in the distal phalanges of the fingers, including coned epiphyses and hypoplasia of the phalanges, are recognized teratogenic effects of the anticonvulsant drugs phenytoin and phenobarbital. We hypothesized that the frequency of these changes would also be increased in the toes of children exposed to these drugs in comparison to unexposed children. METHODS: We report on the findings in an analysis of radiographs of the feet of 63 children exposed in utero to either phenytoin alone, phenobarbital alone or both drugs and 56 unexposed comparison children. RESULTS: Only subtle changes were identified. The frequency of coned epiphyses and hypoplasia of phalanges of the toes was the same in both the anticonvulsant and unexposed children. Among the anticonvulsant-exposed children, however, there was a strong association between the presence of coned epiphyses in the feet and in the hands: all five children with coned epiphyses in the hands, as described previously in the same individuals by Lu et al. ([2000] Teratology 61:277-283) had coned epiphyses in their feet (P = 0.0012). Measurements showed a shortening of metatarsals in all three treatment groups, but this was significant only in the phenytoin monotherapy-exposed children. CONCLUSIONS: Subtle changes are present in the phalanges and metatarsals of the feet of anticonvulsant-exposed children, but the overall frequency is much less than occurred in the hands of the same children. We conclude that the presence of either coned epiphyses or hypoplasia of the phalanges of the toes cannot be considered a distinctive feature of the teratogenicity of the anticonvulsant drugs phenytoin and phenobarbital.     

Replication and fine mapping of asthma-associated loci in individuals of African ancestry

Asthma originates from genetic and environmental factors with about half the risk of disease attributable to heritable causes. Genome-wide association studies, mostly in populations of European ancestry, have identified numerous asthma-associated single nucleotide polymorphisms (SNPs). Studies in populations with diverse ancestries allow both for identification of robust associations that replicate across ethnic groups and for improved resolution of associated loci due to different patterns of linkage disequilibrium between ethnic groups. Here we report on an analysis of 745 African-American subjects with asthma and 3,238 African-American control subjects from the Candidate Gene Association Resource (CARe) Consortium, including analysis of SNPs imputed using 1,000 Genomes reference panels and adjustment for local ancestry. We show strong evidence that variation near RAD50/IL13, implicated in studies of European ancestry individuals, replicates in individuals largely of African ancestry. Fine mapping in African ancestry populations also refined the variants of interest for this association. We also provide strong or nominal evidence of replication at loci near ORMDL3/GSDMB, IL1RL1/IL18R1, and 10p14, all previously associated with asthma in European or Japanese populations, but not at the PYHIN1 locus previously reported in studies of African-American samples. These results improve the understanding of asthma genetics and further demonstrate the utility of genetic studies in populations other than those of largely European ancestry.     

Race, health, and disease in 19th-century-born males

This study analyzed skeletal health disparities among African American and Euro-American males of low socioeconomic status born between 1825 and 1877. A total of 651 skeletons from the Cobb, Hamann-Todd, and Terry anatomical collections were macroscopically examined for skeletal pathologies related to dietary deficiencies and disease. Individuals were separated into age, ancestry, birth (Antebellum, Civil War, Pre-Reconstruction, and Reconstruction), combined ancestry/birth, enslaved versus liberated, and collection cohorts. These groups were statistically evaluated using ANOVA and χ(2) analyses to determine if age, ethnic, and temporal differences existed. Results indicated that African Americans, especially those born during Reconstruction, had significantly higher frequencies of tuberculosis (P = 0.004) and treponematosis (P = 0.006) than Euro-Americans. Historical sources are important in contextualizing why these different ethnic and temporal patterns were present, pointing to environmental conditions related to enslavement, postliberation migration to the industrialized North, crowded urban living conditions, and poor sanitation.     

Principal component analysis of the elongation of metacarpal and phalangeal bones

A hypothesis that the first principal component computed from the covariance matrix of logarithms reflected the specific growth rates of corresponding bones was taken to analyze the growth pattern of the tubular bones of the hand. The total length of 19 tubular bones of the right hand was measured on standardized radiographs of Japanese children (33 boys, 33 girls). Metacarpals in boys and bones of the fifth digit in girls showed higher growth coefficients. The second, third and fourth proximal, and the third and fourth middle phalanges showed lower coefficients for both sexes. These observations suggest the signs of proximal row dominance in boys and of fifth ray dominance in girls in the elongation of the hand bones. A marked sex difference was found in the fifth middle phalanx. In girls the growth coefficients of this bone was much larger than any other bones, but was moderate in boys.     

Finite-element simulation of flexor digitorum longus or flexor digitorum brevis tendon transfer for the treatment of claw toe deformity

Claw toe deformity sometimes leads to dorsiflexion of the metatarsophalangeal joint (MPJ) and plantar flexion of the proximal (PIPJ) and distal interphalangeal (DIPJ) joints. Flexor digitorum longus tendon transfer (FDL) is currently the gold standard for the correction of this problem. Transfer of the flexor digitorum brevis (FDB) has been recently proposed as an alternative method to treat such deformity. The aim of this work is to compare the biomechanical outcome of these two methods by means of finite-element simulation. The results show that the reduction in the dorsal displacement of the proximal phalanx (PP) for the second and third toes were very similar (about 4.3 mm for each intervention), both achieving a significant reduction in MPJ dorsiflexion when compared to no intervention (displacements are reduced by approximately 51%). In the fourth and fifth toes, only a small correction in the deformity was achieved with both the techniques (10% and 7%, respectively). FDB and FDL tendon transfer reduced the stress level when compared with the non-operated pathologic foot (the reduction of stresses for the second and third PP ranged between 20% and 40%). FDB transfer resulted in a more uniform distribution of stress along the entire toe, although differences were small in all cases. These results confirm that both the tendon-transfer techniques are effective in the treatment of claw toe deformity. Therefore, the choice of technique is at the discretion of the surgeon.     

Fingertip reconstructions using partial-toe transfers

Fifty-six partial toes were transferred to reconstruct fingertip deficits. The transfers from the big toe mainly consisted of 3 trimmed big toetips, 3 vascularized nail grafts, 3 onychocutaneous flaps, 19 thin osteo-onychocutaneous flaps, and 2 hemipulp flaps. The transfers from the second toe mainly consisted of 8 trimmed second toetips, 5 reduced second toes, and 9 whole distal phalanges. The average values of postoperative sensory recovery of the osteo-onychocutaneous flaps including the vascularized nail grafts were 3.1 (Semmes-Weinstein test) and 6.3 mm (moving two-point discrimination) at 2.6 years after the transfer; those of the thin osteo-onychocutaneous flaps were 3.1 and 7.2 mm at 2.0 years after surgery; those of the trimmed big toe tip transfers were 3.61 and 6.5 mm at 1.8 years after surgery; and those of the trimmed second toetip transfers were 3.37 and 6.3 mm at 2.6 years after transfer. Those of the distal phalanx of the second toe were 3.41 and 7.9 mm at 1.2 years after surgery, and those of the reduced second toe were 3.2 and 6.7 mm at 10.6 months after surgery.     

The position of the claws in Noasauridae (Dinosauria: Abelisauroidea) and its implications for abelisauroid manus evolution

In this note we reassess the position of putative pedal phalanges of some South American noasaurid theropods (Abelisauroidea). Noasaurids were considered as to be distinctive abelisauroids with a peculiar “sickle claw” on the second toe of the foot, convergently developed with that of deinonychosaurians. Among noasaurids, the Argentinean species Noasaurus leali (latest Cretaceous) and Ligabueino andesi (Early Cretaceous) are known from incomplete specimens, including dissarticulated non-ungueal phalanges, and, in N. leali, a claw. A detailed overview of these elements indicates that the supposed raptorial claw of the second pedal digit of N. leali actually belongs to the first or second finger of the manus, and the putative pedal non-ungual phalanges of both genera also pertain to the manus. Thus, the new interpretations of noasaurid pedal morphology blur the distinctions between Noasauridae and Velocisauridae proposed by previous authors. Finally, we suggest, on the basis of phalangeal and metacarpal morphology, that abelisaurids probably lost their manual claws by means of the loss of function of the HOXA11 and HOXD11 genes. Thus Noasauridae differs from Abelisauridae in retaining plesiomorphic long forelimbs with well developed claws, as occurs plesiomorphically in most basal theropods (e.g., Coelophysis).