Dominantly Inherited Unilateral Terminal Transverse Defects of the Hand (Adactylia) in Twin Sisters and One Daughter

PEDIATRICS ◽  
1986 ◽  
Vol 78 (1) ◽  
pp. 103-106
Author(s):  
John M. Graham ◽  
Forst E. Brown ◽  
Carol L. Struckmeyer ◽  
Christian Hallowell
Keyword(s):  
Autosomal Dominant ◽  
Proximal Phalanx ◽  
The Other ◽  
Type B ◽  
Dominant Inheritance ◽  
Left Hand ◽  
The Family ◽  
Other Woman ◽  
The Right ◽  
Transverse Defect

Most previous cases of unilateral terminal transverse defects of the hand have not been familial. Several previously reported cases of apparent autosomal dominant inheritance of such defects have subsequently been reclassified as type B brachydactyly. We report a pair of adult twin women with unilateral terminal transverse defects affecting the left hand in one woman and the right hand in the other woman. The latter woman has one daughter with a unilateral terminal transverse defect affecting the left hand. The hand anomaly is characterized by absence of the terminal portions of digits 2 to 5 with a mildly hypoplastic thumb (adactylia). Tiny nail remnants are evident on the remaining digital stumps, and no soft tissue syndactyly is apparent. At 2 years of age, the daughter has hypoplastic first, fourth, and fifth metacarpals with no ossification of the second or third metacarpals or any of the phalanges. The affected mother has hypoplastic metacarpals for digits 2 to 4 and a vestigial fifth proximal phalanx on the affected hand, with no other phalanges evident by roentgenogram other than those of the thumb. The mother's twin sister has similar findings, except the ossified phalangeal remnant is on her second and third fingers rather than her fifth finger. Doppler flow arterial patterns appeared normal in each hand of affected family members. The other hand and both feet are clinically and radiologically normal in each case, and the family history is negative for any other individuals with limb anomalies. A review of the literature suggests that this family may very well be unique.

scholarly journals A novel missense in GLI3 possibly affecting one of the zinc finger domains may lead to postaxial synpolydactyly: case report

2019 ◽  
Vol 20 (1) ◽  
Author(s):  
Qianqian Zou ◽  
Zhigang Tian ◽  
Jie Zheng ◽  
Xiufang Zhi ◽  
Xiaojie Du ◽  
...  
Keyword(s):  
Case Report ◽  
Zinc Finger ◽  
Autosomal Dominant ◽  
Normal Function ◽  
Zinc Finger Domain ◽  
Type B ◽  
Case Presentation ◽  
Left Hand ◽  
Zinc Finger Domains ◽  
The Right

Abstract Background Polydactyly is one of the most common congenital hand/foot malformations in humans. Mutations in GLI3 have been reported to cause syndromic and non-syndromic forms of preaxial and postaxial polydactylies. Case presentation The patient was a 2-year-old boy who underwent surgery in our hospital. The right hand and left foot of the patient were labelled as postaxial polydactyly type B, and there was cutaneous webbing between the 3rd and 4th fingers of the left hand. We identified a novel c. 1622C > T variant in GLI3 leading to an isolated postaxial synpolydactyly. Conclusions The patient carries a novel autosomal dominant heterozygous missense mutation. This mutation c.1622C > T;p.(Thr541Met) in the GLI3 gene may affect the normal function of the zinc finger domain (ZFD) in a different way. However, it seems that more research is needed to determine the exact effects of this mutation.

scholarly journals Anatomical work-up of an individual with multiple muscular variants on both forearms

2021 ◽  
Author(s):  
Peter S. Hagedorn ◽  
Bernhard Hirt ◽  
Thomas Shiozawa ◽  
Peter H. Neckel
Keyword(s):  
Carpal Tunnel ◽  
Proximal Phalanx ◽  
Neurovascular Compression ◽  
Male Body ◽  
Muscle Belly ◽  
Left Hand ◽  
Palmaris Longus ◽  
Palmar Aponeurosis ◽  
The Right ◽  
Work Up

AbstractMuscular variants of the forearm are common and frequently cause neurovascular compression syndromes, especially when interfering with the compact topography of the carpal tunnel or the Canalis ulnaris. Here, we report on a male body donor with multiple muscular normal variations on both forearms. The two main findings are (1) an accessory variant muscle (AVM) on the right forearm originating from the M. brachioradialis, the distal radius, and the M. flexor pollicis longus. It spanned the wrist beneath the Fascia antebrachia and inserted at the proximal phalanx of the digitus minimus. (2) Moreover, we found a three-headed palmaris longus variant on the left arm with proximal origin tendon and a distal, trifurcated muscle belly, with separated insertions at the palmar aponeurosis, the flexor retinaculum, and, in analogy to the accessory muscle on the contralateral arm, at the base of the proximal phalanx of the digitus minimus. We found a considerable thickening of the left-hand median nerve right before entering the carpal tunnel indicative of a possible chronic compression syndrome adding clinical relevance to this anatomical case. We also discuss the notion that both, the AVM and the contralateral three-headed palmaris variant are developmental descendants of the M. palmaris longus. Additionally, we found a previously not recorded variant of the M. palmaris brevis on the left hand.

§ XI.—Hellenistic Mycenae

1923 ◽  
Vol 25 ◽  
pp. 408-428
Author(s):  
C. A. Boethius
Keyword(s):  
Common Type ◽  
The Other ◽  
The South ◽  
Left Hand ◽  
The Right

Among the ruins of the Hellenistic buildings at the south end of the Great Ramp, in the fourth or southern chamber (Pl. I. 34), three fragments of a stele (now in the Nauplia Museum) were found. The stele is of a simple and common type, and is made of the same white limestone as the other Mycenaean stele found by Tsountas, which it closely resembles even in its weathering. Except for the top left-hand corner and a gap on the right side the whole stele is preserved. It is ·969 m. in height, ·41–·436 m. in breadth (·41 m. at the ninth line of the inscription) and ·11–·125 m. thick. At the top there is a plain frieze, ·065 m. high : ·02 m. below the frieze begins an inscription which fills twenty lines and ends ·50 m. above the bottom of the stele. The letters are ·008–·01 m. high. The space between the lines is ·009–·011 m. The surface of the stone is very much worn, and it was consequently difficult to make out the letters and their accurate forms. The sketch (Fig. 93) shows the arrangement of the text.

FAMILIAL THYROXINE-BINDING GLOBULIN DEFICIENCY IN ASSOCIATION WITH NON-TOXIC GOITRE

1979 ◽  
Vol 91 (1) ◽  
pp. 70-76 ◽  
Author(s):  
Paul Bratusch-Marrain ◽  
Hannes Haydl ◽  
Werner Waldhäusl ◽  
Robert Dudczak ◽  
Wolfgang Graninger
Keyword(s):  
Clinical Evidence ◽  
Autosomal Dominant ◽  
Serum Concentrations ◽  
Dominant Inheritance ◽  
Normal Range ◽  
Thyroxine Binding Globulin ◽  
The Family ◽  
High Incidence ◽  
Total Thyroxine ◽  
Mode Of Transmission

ABSTRACT A kindred is presented in which 4 members in 3 generations showed absent or reduced serum concentrations of thyroxine-binding globulin (TBG). TBG was undetectable by radioimmunoassay in one male and decreased to varying extent in 3 female patients (4.0, 4.2 and 8.6 μg/ml; normal range 12.5–26.0 μg/ml). Total thyroxine serum concentrations in the affected subjects were well in the hypothyroid range without clinical evidence of hypothyroidism. The mode of transmission of the trait was consistent with X-chromosome linkage. A high incidence of non-toxic goitre was also present in most of the family members examined irrespective of TBG levels. The transmission of the goitre trait was compatible with autosomal dominant inheritance. Thus its association with transmission of TBG deficiency was interpreted as not causal but coincidental.

scholarly journals Handedness results from complementary hemispheric dominance, not global hemispheric dominance: evidence from mechanically coupled bilateral movements

2018 ◽  
Vol 120 (2) ◽  
pp. 729-740 ◽  
Author(s):  
Elizabeth J. Woytowicz ◽  
Kelly P. Westlake ◽  
Jill Whitall ◽  
Robert L. Sainburg
Keyword(s):  
Motor Control ◽  
Dynamic Control ◽  
The Other ◽  
Hemispheric Dominance ◽  
Control Mechanisms ◽  
Left Hand ◽  
Right Hand ◽  
Other Hand ◽  
Task Component ◽  
The Right

Two contrasting views of handedness can be described as 1) complementary dominance, in which each hemisphere is specialized for different aspects of motor control, and 2) global dominance, in which the hemisphere contralateral to the dominant arm is specialized for all aspects of motor control. The present study sought to determine which motor lateralization hypothesis best predicts motor performance during common bilateral task of stabilizing an object (e.g., bread) with one hand while applying forces to the object (e.g., slicing) using the other hand. We designed an experimental equivalent of this task, performed in a virtual environment with the unseen arms supported by frictionless air-sleds. The hands were connected by a spring, and the task was to maintain the position of one hand while moving the other hand to a target. Thus the reaching hand was required to take account of the spring load to make smooth and accurate trajectories, while the stabilizer hand was required to impede the spring load to keep a constant position. Right-handed subjects performed two task sessions (right-hand reach and left-hand stabilize; left-hand reach and right-hand stabilize) with the order of the sessions counterbalanced between groups. Our results indicate a hand by task-component interaction such that the right hand showed straighter reaching performance whereas the left hand showed more stable holding performance. These findings provide support for the complementary dominance hypothesis and suggest that the specializations of each cerebral hemisphere for impedance and dynamic control mechanisms are expressed during bilateral interactive tasks. NEW & NOTEWORTHY We provide evidence for interlimb differences in bilateral coordination of reaching and stabilizing functions, demonstrating an advantage for the dominant and nondominant arms for distinct features of control. These results provide the first evidence for complementary specializations of each limb-hemisphere system for different aspects of control within the context of a complementary bilateral task.

Rediscovering Leon Theremin

Tempo ◽  
1991 ◽  
pp. 18-23 ◽  
Author(s):  
Stephen Montague
Keyword(s):  
Electromagnetic Field ◽  
The Other ◽  
Electronic Instrument ◽  
Left Hand ◽  
Vertical Antenna ◽  
Right Hand ◽  
Concert Halls ◽  
The Right

In the early 1920s and 30s a strange electronic instrument found its way from Russia into some of the more fashionable ballrooms, night clubs, and concert halls in Europe and America. This exotic new invention, called the ‘theremin’ or ‘thereminvox’, caused a considerable stir. Part of the interest was its unusual sound (like a musical saw mated with a light soprano), but its most dramatic feature was that the performer never actually touched the instrument. He or she simply waved graceful hands near the two antennae (one set vertically, the other looped horizontally) to coax out seamless, melifluous melodies. The proximity of the right hand to the vertical antenna changed the ultrasonic electromagnetic field, thus changing the pitch over about a six-octave range. The left hand (or sometimes a foot pedal) controlled the volume. By gently shaking the right hand at the antenna a vibrato could be achieved, giving performances a little more musical (not to mention choreographic) interest. Fashionable women dressed in long gowns seemed to be favourite photographic subjects of the period as performers, as well as the inventor himself, poised ‘playing the rods’ in full dress tails, arms outstretched like a great conductor–or perhaps sorcerer.

scholarly journals The role of motivation on secondary school students’ causal attributions to choose or abandon chemistry

2020 ◽  
Author(s):  
Diego Ardura ◽  
Ángela Zamora ◽  
Alberto Pérez-Bitrián
Keyword(s):  
Secondary Education ◽  
Secondary School ◽  
Secondary School Students ◽  
Causal Attributions ◽  
The Other ◽  
Education Curriculum ◽  
School Students ◽  
The Family ◽  
The Right

The present investigation aims to analyze the effect of motivation on students’ causal attributions to choose or abandon chemistry when it first becomes optional in the secondary education curriculum in Spain. Attributions to the effect of the family and to the teacher and classroom methodology were found to be common predictors of the choice to all the students in the sample. However, our analyses point to a significant effect of the students’ motivation in other types of attributions. In the case of at-risk of abandonment students, specific causal attributions to the effect of friends and to the subject's relationship with mathematics were found. On the other hand, the effect of media was a significant predictor only in the case of highly-motivated students. Our study provides several suggestions for teachers, schools, and administrations to design counseling strategies to help students make the right choices.

scholarly journals XIV.—Ancient Gold Ornaments: described by John Yonge Akerman, Esq. Secretary

Archaeologia ◽  
1853 ◽  
Vol 35 (1) ◽  
pp. 190-193
Author(s):  
John Yonge Akerman
Keyword(s):  
Light Chain ◽  
The Body ◽  
The Other ◽  
Asia Minor ◽  
Plate Viii ◽  
Left Hand ◽  
Small Loop ◽  
The Individual ◽  
The Right ◽  
Of Greece

With the exception of Figs. 1, 2, 3, the Gold Ornaments engraved in Plate VIII. have no reference whatever to each other. The first three were obtained by Viscount Strangford, Director of the Society, from a Greek priest at Milo, in the year 1820. Figs. 1 and 3 appear to have formed the ends of a light chain, and the other (fig. 2) to have been pendent by a small loop on the top of the head. The figure has unfortunately lost the feet and the left hand, but the other parts are perfect. The right hand is raised in an admonitory attitude. The forehead appears as if encircled with a wreath, while the body is crossed by what would seem to be intended for the tendril of a vine. The necklace was formerly in the collection of the late Mr. H. P. Borrell, of Smyrna, but I am informed by his brother, Mr. Maximilian Borrell, who now possesses it, that no record exists of its discovery, and that he cannot learn the name of the individual from whom it was purchased. It was well known that Mr. H. P. Borrell was in the habit of purchasing ancient coins, which were sent to him from all parts of Greece and Asia-Minor, and that many rare and unique specimens fell into his hands, of which he contributed descriptions in various volumes of the Numismatic Chronicle. The necklace may, therefore, have been included in one of these numerous consignments, and we can scarcely indulge the hope that the place of its discovery will ever be made known. As an example of ancient art, it may vie with the most elaborate and beautiful specimens of goldsmiths' work of any age or period. The details are wonderfully minute and delicate, even the backs of the button-like objects at the ends of the pendent cords being elaborately finished.

scholarly journals Familial primary spontaneous pneumothorax consistent with true autosomal dominant inheritance.

Thorax ◽  
1998 ◽  
Vol 53 (2) ◽  
pp. 151-152 ◽  
Author(s):  
P J Morrison ◽  
R C Lowry ◽  
N C Nevin
Keyword(s):  
Spontaneous Pneumothorax ◽  
Autosomal Dominant ◽  
Age Of Onset ◽  
Autosomal Dominant Inheritance ◽  
Clinical Entity ◽  
Primary Spontaneous Pneumothorax ◽  
Dominant Inheritance ◽  
Distinct Clinical Entity ◽  
The Family ◽  
Mode Of Inheritance

A family exhibiting spontaneous pneumothorax in a father and three offspring (two sons, and one daughter) is described. The mode of inheritance is apparently autosomal dominant with two episodes of male to male transmission in one family. The age of onset varied by up to 13 years within the family. Isolated autosomal dominant pneumothorax appears to be a distinct clinical entity.

Failure to Sing the Left-Hand Part of the Score during Piano Performance: Loss of the Pitch and Stroop Vocalizations

1989 ◽  
Vol 6 (3) ◽  
pp. 299-314 ◽  
Author(s):  
Yves Guiard
Keyword(s):  
The Other ◽  
Vocal Response ◽  
Left Hand ◽  
Performance Loss ◽  
Clear Cut ◽  
Right Hand ◽  
Hand Part ◽  
Continuous Regime ◽  
And Performance ◽  
The Right

An experiment compared the ability of classical pianists to sing, during keyboard performance, the right- and the left-hand part of the score being played. Upon instructions requiring them to "sing" one or the other voice of the score, the subjects spontaneously chose to sing and name the notes simultaneously, in keeping with the French traditional way of reading music, thus producing a two- dimensional tonal and verbal vocal act in response to each visual stimulus. Singing the right-hand part of the music, whether in unison with or in place of the right hand, while concurrently playing the left-hand part was judged easy by all subjects, and performance, typically, was correct in all respects. The other task, consisting of singing the left-hand part of the music, was judged more difficult by all subjects, and performance, more often than not, was poor. Careful inspection of the many errors that were recorded in the latter task revealed a few clear-cut regularities. Failures were vocal, but not manual. More specifically, vocal failures took place on the tonal dimension of the vocal response, but not on its verbal dimension: The song, but not the naming of the notes, was prone to fail, with either a loss of the pitch, or a systematic trend toward singing unduly—albeit accurately—the notes of the right-hand part. A number of subjects were found to display this intriguing tonal/verbal dissociation—naming a note at a pitch corresponding to another note—in a continuous regime. It is emphasized that this phenomenon amounts to the spontaneous production of musical events that belong to the Stroop category.

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