Clinical Genetics 1990: 38: 105-1 13
Heart-hand syndrome II. A report of Tabatznik syndrome with new findings MARGHERITA C. SILENGO, M. BIAGIOLI,A. GUALA,GRACIELA LOPEZ-BELL AND R. LALA’ Istituto di Discipline Pediatriche, Servizio de Genetica Clinica, Universita’di Torino, and ‘Servitio di Endocrinologia, Ospedale Infantile Regina Margherita, Torino, Italy The association of upper limb malformations and congenital cardiac anomalies was established as a definite clinical and genetic entity by Holt & Oram in 1960. Significant variability of malformations in both the upper limbs and the cardiovascular system has been well documented. In 1978, Temtamy & McKusick reported a family studied by Tabatznik, in which upper limb deformities, including type D brachydactyly, occurred in association with cardiac arrhythmias as a dominant, either autosomal or X-linked trait. They called this apparently new entity “Heart-Hand syndrome 11” to distinguish it from the Holt-Oram syndrome. No other similar cases have subsequently been reported. We describe here the second family affected with the Tabatznik syndrome and add some new findings to the clinical spectrum of this condition. Received 24 July 1989, revised 18 January. accepted for publication 20 January 1990 Key words: brachydactyly; cardiac arrhythmias; congenital heart disease; Holt-Oram syndrome; polydactyly; Tabatznik syndrome; upper limb anomalies.
The high frequency of the association of mation is an atrial septa1 defect, several congenital heart disease with radial defects other types of congenital heart diseases have has been known since the report of Birch- been observed in the Holt-Oram syndrome, Jensen in 1949. Though several examples of including arrhythmias. this association have been mentioned in the Temtamy & McKusick (1978) in their literature, the first report that focused atten- symposium “The genetics of hand malfortion on its autosomal dominant inheritance mation” reported the family originally obas a specific syndrome, was by Holt & Oram served by Tabatznik and described in a perin 1960. Since then, well over 100 cases have sonal communication by the author, under been described, providing information on the heading: “Heart-hand syndrome type the extreme variability of upper limb and 11”. The affected patients exhibited the ascardiac malformations in the syndrome. sociation of upper limb malformations and Although radial side defects are the most cardiac arrhythmias which segregated as a common skeletal anomalies, and triphalan- dominant either autosomal or X-linked geal or hypoplastic thumb is the typical trait. The hand malformation in this family hand malformation, minor anomalies that is a brachytelephalangy of the thumb, simimay escape clinical observation, such as ac- lar to that seen in type D brachydactyly, cessory carpal bones or carpal fusions, are and a mild shortening of the fourth and considered to be even more specific for the fifth metacarpals in some individuals. All affected family members had sloping diagnosis (Poznanski 1970). While the characteristic heart malfor- shoulders, hypoplastic deltoids, short upper
S I L E N G O ET A L .
106
limbs, flaring of the distal end of the humeri, bowing of the distal radii and absence of the styloid processes of the ulnae. The association of this particular type of limb malformation with cardiac arrhythmias had not been previously described, although Goodman et al. (1965) mentioned a family in which stub thumb was associated with arrhythmias in some members. We report a family in which the 8-yearold proband presents all the typical cardiac and upper limb features of the Tabatznik syndrome, including a mild brachytelephalangy of the thumb revealed by the metacarpophalangeal profile. In addition, he has in his left wrist an accessory carpal bone in the position of an 0s centrale which, according to Poznanski, is one of the more common signs observed in Holt-Oram syndrome, having been observed in 17 out of the 23 patients he studied. We suggest that the facial dysmorphism, the cryptorchidism and the mild mental re-
0 0 NORMAL MALE , FEMALE mJ8 CONGENITAL HEART DISEASE
a
UPPER
0
THUMB
m@
LIMB
Clinical Case Reports Case 1
The proband is an 8-year-old male. The family history is shown in Fig. 1. The patient was the product of his mother's fourth pregnancy. The first and the second pregnancies terminated in spontaneous abortions at the 3rd and 4th month, respectively. No information is available as to the presence of malformations in the aborted fetuses. The older female sib is Case 2 of this report. The proband's pregnancy, which was
- ARRHMHMIAS
MALFORMATIONS
STUB THUMB POLYDACNLY
0
SPONTANEOUS
f
PROBAND
a0
tardation present in our proband, may be other new findings to add to the clinical spectrum of the Tabatznik syndrome and that they may be useful in the differential diagnosis from the Holt-Oram syndrome.
ABORTION
DECEASED
Fig. 1. Family pedigree.
Fig. 2. General phenotype of the proband.
HEART-HAND SYNDROME I I
complicated by bleeding during the 4th and the 5th months, lasted 36 weeks and terminated in a spontaneous delivery. Birth weight was 2300 g, length 47.5 cm and head circumference 32.5 cm; Apgar scores 6-9. At birth, a congenital heart disease was suspected and cryptorchidism was observed. The cardiological follow-up failed to demonstrate a structural heart defect but revealed the presence of arrhythmias manifesting as episodes of sino-atrial tachycardia, ectopic nodal beats, junctional escapes and occasional ventricular extrasystoles. He came to attention at age 8 for evaluation and treatment of his cryptorchidism. His height, weight and head circumference were within the normal limits. He had lowset anterior and posterior hairlines, simple patterned ears with two small pits in the left lobule, and high-arched palate with dental
I
.& Fig. 3. Facial dysmorphism of the proband.
I
107
malocclusion. He had sloping shoulders with hypoplastic deltoids, short and asymmetrical arms (the right arm was 3 cm shorter than the left) with limited extension and pronation at the elbows, asymmetry of the chest and of nipple placement, bilateral cryptorchidism, dysplastic fifth toenails and borderline mental retardation (Fig. 2, 3). Dermatoglyphics showed bilateral Sidney lines but were otherwise unremarkable. On clinical examination no evident shortness of the thumbs was observed; however, the metacarpophalangeal profile demonstrated a brachytelephalangy of both thumbs, a slight shortness of the fourth metacarpals as well as shortening of the 2nd, 3rd, 4th and 5th proximal phalanges and of the 4th middle phalanges (Fig. 4). Brachytelephalangy of the thumbs was confirmed by the evaluation of the relative proportion of the
108 +4
+3
-
SILENGO ET A t .
I
-
4 1 1 2 3 4 5 1 2 3 4 6 2 3 4 6 1 2 3 4 6
METACAAPAL
PROXIMAL. MIDDLE.
Fig. 4. Metacarpophalangeal profile of the proband illustrating the brachytelephalangy of the thumbs, shortness of the 4th metacarpals, of the 2nd, 3rd, 4th and 5th proximal phalanges and 4th middle phalanges.
bones of the thumb according to Garn et al. (1972). Skeletal X-rays showed broad and coarse clavicles, asymmetry and abnormal structure of the scapulae, elbow dysplasia with flaring of the distal end of the humeri, and abnormalities of proximal radii and ulnae, asymmetrical shortening of forearms with bowing of the radial shafts and irregularity
Fig. 5. Chest X-rays of index case showing clavicular and scapular anomalies.
of the distal radial metaphyses, pseudoepiphyses of the second metacarpals and mild shortness of the fourth as well as mild brachytelephalangy of both thumbs. An accessory carpal bone in the form of an 0 s centrale, possibly fused with the scaphoid, was observed in the left wrist (Fig. 5 , 6 , 7). The dynamic ECG (Holter) demonstrated the presence of cardiac arrhythmias manifesting as periods of slow AV junctional rhythm alternating with periods of sinoatria1 tachycardia and frequent junctional escape beats (Fig. 8). Analysis of BUdR R-banded chromosomes revealed a normal 46,XY karyotype (Fig. 9). Case 2 (‘111-4) This girl was the only sib of the proband and died at age 3 following heart surgery for
Fig. 6. Upper limbs X-rays Illustrating the radioulnar abnormalities and the elbow dysplasia.
HEART-HAND SYNDROME II
a complex cyanotic congenital heart defect. Her history was obtained from the hospital records. She was the product of a 35-week pregnancy. Birth weight was 2370 g, and APGAR scores 5-8. She was noted to have a preaxial polydactyly of the left hand and a cardiac murmur. Cardiac evaluation demonstrated the presence of a complex heart malformation consisting of coarctation of the aorta, ventricular septa1 defect, patent ductus arteriosus and right ventricular and atrial hypertrophy. Skeletal X-rays were reported as normal but were not available for study. The blood karyotype was normal 46,XX. She died of heart failure at age 3, following heart surgery. Case 3 (11-3) Mother of the Proband 11-3 died at age 29 because of heart failure and had a life-long history of cardiac ar-
109
rhythmias with recurrent episodes of atrial fibrillation unresponsive to therapy (Fig. 10). According to her husband, she was of average height but had narrow shoulders and short arms; no information is available as to the presence of stub thumbs. In her hospital record there is a description of a radiological skeletal survey in which elbow dysplasia, abnormal bowing of radial and ulnar shafts and irregularities of distal radii are reported. On the chest X-rays, abnormal shape and position of the clavicles and scapulae may be noted (Fig. 11). Case 4 (11-5) Mother's First Cousin 11-5 was born with a bifid right thumb which was surgically corrected and she is said to have short, broad thumbs. She has never complained of cardiac arrhythmias or heart diseases. She refused to be examined.
Fig. 7. Patient's X-rays showing the extra carpal bone in the left hand.
110
SILENGO ET AL
Proband’s Grandparents ( I - ] , I-2) No information could be obtained regarding the proband’s maternal grandparents (I1, 1-2) with respect to the presence of heart and/or upper limb anomalies. Discussion
In 1978, Temtamy KL McKusick in their symposium on hand malformations, reported a family studied by Tabatznik, in which upper limbs deformities, mainly in the form of thumb brachydactyly, and congenital cardiac arrhythmias occurred in three generations as a dominant trait. In the absence of male-to-male transmission, X-linked inheritance could not be ruled out. The condition was thought to represent a distinct syndromic entity and was named “HeartHand syndrome type 11”. Subsequently, in 1980, Ruidze la Fuen-
Fig. 8. Proband’s ECG showing cardiac arrhythmias.
te & Frieto reported on a new autosomal dominant type of heart-hand syndrome, which they called type 111, and in which cardiac arrhythmias were associated with type C brachydactyly. No upper limb anomalies, beside those of hands and feet, were present in the affected family members. The cardiac arrhythmias were also specific and consisted of intraventricular conduction defects in three individuals and in “sick sinus syndrome” in one. The spectrum of clinical and radiological anomalies present in our index case is very similar to that observed by Tabatznik in his family. The presence of thumb brachydactyly was not clinically obvious in our patient, but was demonstrated by the analysis of the metacarpo-phalangeal profile and of the relative proportion of the bones of the thumb. Upper limb anomalies such as sloping shoulders, hypoplastic deltoids,
HEART-HAND S Y N D R O M E II
111
skeletal dysplasia of the elbows, bowing of ical expressivity. In particular, he observed the ulnar and radial shafts, and deformity an 0s centrale adjacent to or fused with the of the distal radial ends, were consistently scaphoid in 17 of the 23 cases he studied. A present in all the members of Tabatznik’s variety of upper limb and shoulder anomfamily who were specifically examined. alies was also described. Cardiac arrhythThumb polydactyly was observed in the fe- mias, with or without structural heart demale sib of Tabatznik’s proband as well as fects, can occasionally be seen in patients in two of our familial cases, and it probably with the Holt-Oram syndrome. constitutes a characteristic feature of the On the other hand, accessory carpal syndrome. bones can be seen in other malformation The finding of an extra carpal bone in syndromes beside the Holt-Oram, such as one hand of our proband, not present in the Otopalato-digital type I and I1 and Larsen Tabatznik cases, prompted us to review the syndromes. Thumb polydactyly without a literature on the skeletal malformations in triphalangeal thumb is not a feature of the the Holt-Oram syndrome, in which carpal Holt-Oram syndrome; it has been observed bone anomalies are frequently observed. only in one questionable case (Temtamy & According to Poznanski et al. (1970), the Mckusick 1978). The dermatoglyphics and presence of carpal fusions or accessory car- the metacarpophalangeal profile of our inpal bones is even more specific for the diag- dex case are different from those observed nosis of Holt-Oram syndrome than the in the classical heart-hand syndrome. By thumb anomalies in cases with reduced clin- definition, no other clinical anomalies be-
Fig. 9. 6UdR R-banded. normal chromosomes of index case.
112
SILENGO ET AL.
[Stockholm. !rnR Fig. 10. ECG of Case 3 illustrating atrial fibrillation.
side those of the heart and the upper limbs are found in the Holt-Oram syndrome, and mental retardation is not a feature. We therefore think that our family might be the second ascertained family affected
with the Tabatznik syndrome. We suggest that carpal anomalies are a feature of this syndrome. The facial dysmorphism, ear anomalies, cryptorchidism and mental retardation observed in our proband probably represent additional findings that expand the spectrum of the clinical variability of the Tabatznik syndrome and that may prompt recognition of further cases.
References
Fig. 11. Chest X-rays of Case 3 demonstrating the clavicular and scapular anomalies.
Birch-Jensen, A. (1 949). Congenital Deformities of the Upper Extremities. Copenhagen, Munksgaard. IGarn, S. M., K. P. Hertzog, A. K. Poznanski & J. M. Nagy (1972). Metacarpophalangeal length in evaluation of skeletal malformations. Radiology 105, 375-381. Goodman, R. M., A. Adam & C. Sheba (1965). A genetic study of stub thumb among various groups in Israel. J. Med. Genet. 2, 1 15-121.
HEART-HAND SYNDROME II Holt, M. & S. Oram (1960). Familial heart disease with skeletal malformations. Br. Heart J. 22, 236-242. Poznanski, A. K., J. C. Gall & A. M. Stern (1970). Skeletal manifestations of the HoltOram syndrome. Radiology 9445-53. Poznanski, A. K., S. M. Garn, J. C. Gall & A. M. Stem (1972). Objective evaluation of the hand in the Holt-Oram syndrome. Birrh Defects OAS VIII (9, 125-131. Ruidze la Fuente, S. & F. Frieto (1980). Hearthand syndrome 111. A new syndrome in three generations. Hum. Genet. 55, 4341.
113
Temtamy, S. & V. McKusick (1978). The genetics of hand malformations. Birth Defects OAS XIV (3), 241-244. Address: Margherita C. Silengo M.D. Istituto di Discipline Pediatriche Universitd di Torino Piazza Polonia 94 10126 Torino Italy
Heart-hand syndrome II. A report of Tabatznik syndrome with new findings MARGHERITA C. SILENGO, M. BIAGIOLI,A. GUALA,GRACIELA LOPEZ-BELL AND R. LALA’ Istituto di Discipline Pediatriche, Servizio de Genetica Clinica, Universita’di Torino, and ‘Servitio di Endocrinologia, Ospedale Infantile Regina Margherita, Torino, Italy The association of upper limb malformations and congenital cardiac anomalies was established as a definite clinical and genetic entity by Holt & Oram in 1960. Significant variability of malformations in both the upper limbs and the cardiovascular system has been well documented. In 1978, Temtamy & McKusick reported a family studied by Tabatznik, in which upper limb deformities, including type D brachydactyly, occurred in association with cardiac arrhythmias as a dominant, either autosomal or X-linked trait. They called this apparently new entity “Heart-Hand syndrome 11” to distinguish it from the Holt-Oram syndrome. No other similar cases have subsequently been reported. We describe here the second family affected with the Tabatznik syndrome and add some new findings to the clinical spectrum of this condition. Received 24 July 1989, revised 18 January. accepted for publication 20 January 1990 Key words: brachydactyly; cardiac arrhythmias; congenital heart disease; Holt-Oram syndrome; polydactyly; Tabatznik syndrome; upper limb anomalies.
The high frequency of the association of mation is an atrial septa1 defect, several congenital heart disease with radial defects other types of congenital heart diseases have has been known since the report of Birch- been observed in the Holt-Oram syndrome, Jensen in 1949. Though several examples of including arrhythmias. this association have been mentioned in the Temtamy & McKusick (1978) in their literature, the first report that focused atten- symposium “The genetics of hand malfortion on its autosomal dominant inheritance mation” reported the family originally obas a specific syndrome, was by Holt & Oram served by Tabatznik and described in a perin 1960. Since then, well over 100 cases have sonal communication by the author, under been described, providing information on the heading: “Heart-hand syndrome type the extreme variability of upper limb and 11”. The affected patients exhibited the ascardiac malformations in the syndrome. sociation of upper limb malformations and Although radial side defects are the most cardiac arrhythmias which segregated as a common skeletal anomalies, and triphalan- dominant either autosomal or X-linked geal or hypoplastic thumb is the typical trait. The hand malformation in this family hand malformation, minor anomalies that is a brachytelephalangy of the thumb, simimay escape clinical observation, such as ac- lar to that seen in type D brachydactyly, cessory carpal bones or carpal fusions, are and a mild shortening of the fourth and considered to be even more specific for the fifth metacarpals in some individuals. All affected family members had sloping diagnosis (Poznanski 1970). While the characteristic heart malfor- shoulders, hypoplastic deltoids, short upper
S I L E N G O ET A L .
106
limbs, flaring of the distal end of the humeri, bowing of the distal radii and absence of the styloid processes of the ulnae. The association of this particular type of limb malformation with cardiac arrhythmias had not been previously described, although Goodman et al. (1965) mentioned a family in which stub thumb was associated with arrhythmias in some members. We report a family in which the 8-yearold proband presents all the typical cardiac and upper limb features of the Tabatznik syndrome, including a mild brachytelephalangy of the thumb revealed by the metacarpophalangeal profile. In addition, he has in his left wrist an accessory carpal bone in the position of an 0s centrale which, according to Poznanski, is one of the more common signs observed in Holt-Oram syndrome, having been observed in 17 out of the 23 patients he studied. We suggest that the facial dysmorphism, the cryptorchidism and the mild mental re-
0 0 NORMAL MALE , FEMALE mJ8 CONGENITAL HEART DISEASE
a
UPPER
0
THUMB
m@
LIMB
Clinical Case Reports Case 1
The proband is an 8-year-old male. The family history is shown in Fig. 1. The patient was the product of his mother's fourth pregnancy. The first and the second pregnancies terminated in spontaneous abortions at the 3rd and 4th month, respectively. No information is available as to the presence of malformations in the aborted fetuses. The older female sib is Case 2 of this report. The proband's pregnancy, which was
- ARRHMHMIAS
MALFORMATIONS
STUB THUMB POLYDACNLY
0
SPONTANEOUS
f
PROBAND
a0
tardation present in our proband, may be other new findings to add to the clinical spectrum of the Tabatznik syndrome and that they may be useful in the differential diagnosis from the Holt-Oram syndrome.
ABORTION
DECEASED
Fig. 1. Family pedigree.
Fig. 2. General phenotype of the proband.
HEART-HAND SYNDROME I I
complicated by bleeding during the 4th and the 5th months, lasted 36 weeks and terminated in a spontaneous delivery. Birth weight was 2300 g, length 47.5 cm and head circumference 32.5 cm; Apgar scores 6-9. At birth, a congenital heart disease was suspected and cryptorchidism was observed. The cardiological follow-up failed to demonstrate a structural heart defect but revealed the presence of arrhythmias manifesting as episodes of sino-atrial tachycardia, ectopic nodal beats, junctional escapes and occasional ventricular extrasystoles. He came to attention at age 8 for evaluation and treatment of his cryptorchidism. His height, weight and head circumference were within the normal limits. He had lowset anterior and posterior hairlines, simple patterned ears with two small pits in the left lobule, and high-arched palate with dental
I
.& Fig. 3. Facial dysmorphism of the proband.
I
107
malocclusion. He had sloping shoulders with hypoplastic deltoids, short and asymmetrical arms (the right arm was 3 cm shorter than the left) with limited extension and pronation at the elbows, asymmetry of the chest and of nipple placement, bilateral cryptorchidism, dysplastic fifth toenails and borderline mental retardation (Fig. 2, 3). Dermatoglyphics showed bilateral Sidney lines but were otherwise unremarkable. On clinical examination no evident shortness of the thumbs was observed; however, the metacarpophalangeal profile demonstrated a brachytelephalangy of both thumbs, a slight shortness of the fourth metacarpals as well as shortening of the 2nd, 3rd, 4th and 5th proximal phalanges and of the 4th middle phalanges (Fig. 4). Brachytelephalangy of the thumbs was confirmed by the evaluation of the relative proportion of the
108 +4
+3
-
SILENGO ET A t .
I
-
4 1 1 2 3 4 5 1 2 3 4 6 2 3 4 6 1 2 3 4 6
METACAAPAL
PROXIMAL. MIDDLE.
Fig. 4. Metacarpophalangeal profile of the proband illustrating the brachytelephalangy of the thumbs, shortness of the 4th metacarpals, of the 2nd, 3rd, 4th and 5th proximal phalanges and 4th middle phalanges.
bones of the thumb according to Garn et al. (1972). Skeletal X-rays showed broad and coarse clavicles, asymmetry and abnormal structure of the scapulae, elbow dysplasia with flaring of the distal end of the humeri, and abnormalities of proximal radii and ulnae, asymmetrical shortening of forearms with bowing of the radial shafts and irregularity
Fig. 5. Chest X-rays of index case showing clavicular and scapular anomalies.
of the distal radial metaphyses, pseudoepiphyses of the second metacarpals and mild shortness of the fourth as well as mild brachytelephalangy of both thumbs. An accessory carpal bone in the form of an 0 s centrale, possibly fused with the scaphoid, was observed in the left wrist (Fig. 5 , 6 , 7). The dynamic ECG (Holter) demonstrated the presence of cardiac arrhythmias manifesting as periods of slow AV junctional rhythm alternating with periods of sinoatria1 tachycardia and frequent junctional escape beats (Fig. 8). Analysis of BUdR R-banded chromosomes revealed a normal 46,XY karyotype (Fig. 9). Case 2 (‘111-4) This girl was the only sib of the proband and died at age 3 following heart surgery for
Fig. 6. Upper limbs X-rays Illustrating the radioulnar abnormalities and the elbow dysplasia.
HEART-HAND SYNDROME II
a complex cyanotic congenital heart defect. Her history was obtained from the hospital records. She was the product of a 35-week pregnancy. Birth weight was 2370 g, and APGAR scores 5-8. She was noted to have a preaxial polydactyly of the left hand and a cardiac murmur. Cardiac evaluation demonstrated the presence of a complex heart malformation consisting of coarctation of the aorta, ventricular septa1 defect, patent ductus arteriosus and right ventricular and atrial hypertrophy. Skeletal X-rays were reported as normal but were not available for study. The blood karyotype was normal 46,XX. She died of heart failure at age 3, following heart surgery. Case 3 (11-3) Mother of the Proband 11-3 died at age 29 because of heart failure and had a life-long history of cardiac ar-
109
rhythmias with recurrent episodes of atrial fibrillation unresponsive to therapy (Fig. 10). According to her husband, she was of average height but had narrow shoulders and short arms; no information is available as to the presence of stub thumbs. In her hospital record there is a description of a radiological skeletal survey in which elbow dysplasia, abnormal bowing of radial and ulnar shafts and irregularities of distal radii are reported. On the chest X-rays, abnormal shape and position of the clavicles and scapulae may be noted (Fig. 11). Case 4 (11-5) Mother's First Cousin 11-5 was born with a bifid right thumb which was surgically corrected and she is said to have short, broad thumbs. She has never complained of cardiac arrhythmias or heart diseases. She refused to be examined.
Fig. 7. Patient's X-rays showing the extra carpal bone in the left hand.
110
SILENGO ET AL
Proband’s Grandparents ( I - ] , I-2) No information could be obtained regarding the proband’s maternal grandparents (I1, 1-2) with respect to the presence of heart and/or upper limb anomalies. Discussion
In 1978, Temtamy KL McKusick in their symposium on hand malformations, reported a family studied by Tabatznik, in which upper limbs deformities, mainly in the form of thumb brachydactyly, and congenital cardiac arrhythmias occurred in three generations as a dominant trait. In the absence of male-to-male transmission, X-linked inheritance could not be ruled out. The condition was thought to represent a distinct syndromic entity and was named “HeartHand syndrome type 11”. Subsequently, in 1980, Ruidze la Fuen-
Fig. 8. Proband’s ECG showing cardiac arrhythmias.
te & Frieto reported on a new autosomal dominant type of heart-hand syndrome, which they called type 111, and in which cardiac arrhythmias were associated with type C brachydactyly. No upper limb anomalies, beside those of hands and feet, were present in the affected family members. The cardiac arrhythmias were also specific and consisted of intraventricular conduction defects in three individuals and in “sick sinus syndrome” in one. The spectrum of clinical and radiological anomalies present in our index case is very similar to that observed by Tabatznik in his family. The presence of thumb brachydactyly was not clinically obvious in our patient, but was demonstrated by the analysis of the metacarpo-phalangeal profile and of the relative proportion of the bones of the thumb. Upper limb anomalies such as sloping shoulders, hypoplastic deltoids,
HEART-HAND S Y N D R O M E II
111
skeletal dysplasia of the elbows, bowing of ical expressivity. In particular, he observed the ulnar and radial shafts, and deformity an 0s centrale adjacent to or fused with the of the distal radial ends, were consistently scaphoid in 17 of the 23 cases he studied. A present in all the members of Tabatznik’s variety of upper limb and shoulder anomfamily who were specifically examined. alies was also described. Cardiac arrhythThumb polydactyly was observed in the fe- mias, with or without structural heart demale sib of Tabatznik’s proband as well as fects, can occasionally be seen in patients in two of our familial cases, and it probably with the Holt-Oram syndrome. constitutes a characteristic feature of the On the other hand, accessory carpal syndrome. bones can be seen in other malformation The finding of an extra carpal bone in syndromes beside the Holt-Oram, such as one hand of our proband, not present in the Otopalato-digital type I and I1 and Larsen Tabatznik cases, prompted us to review the syndromes. Thumb polydactyly without a literature on the skeletal malformations in triphalangeal thumb is not a feature of the the Holt-Oram syndrome, in which carpal Holt-Oram syndrome; it has been observed bone anomalies are frequently observed. only in one questionable case (Temtamy & According to Poznanski et al. (1970), the Mckusick 1978). The dermatoglyphics and presence of carpal fusions or accessory car- the metacarpophalangeal profile of our inpal bones is even more specific for the diag- dex case are different from those observed nosis of Holt-Oram syndrome than the in the classical heart-hand syndrome. By thumb anomalies in cases with reduced clin- definition, no other clinical anomalies be-
Fig. 9. 6UdR R-banded. normal chromosomes of index case.
112
SILENGO ET AL.
[Stockholm. !rnR Fig. 10. ECG of Case 3 illustrating atrial fibrillation.
side those of the heart and the upper limbs are found in the Holt-Oram syndrome, and mental retardation is not a feature. We therefore think that our family might be the second ascertained family affected
with the Tabatznik syndrome. We suggest that carpal anomalies are a feature of this syndrome. The facial dysmorphism, ear anomalies, cryptorchidism and mental retardation observed in our proband probably represent additional findings that expand the spectrum of the clinical variability of the Tabatznik syndrome and that may prompt recognition of further cases.
References
Fig. 11. Chest X-rays of Case 3 demonstrating the clavicular and scapular anomalies.
Birch-Jensen, A. (1 949). Congenital Deformities of the Upper Extremities. Copenhagen, Munksgaard. IGarn, S. M., K. P. Hertzog, A. K. Poznanski & J. M. Nagy (1972). Metacarpophalangeal length in evaluation of skeletal malformations. Radiology 105, 375-381. Goodman, R. M., A. Adam & C. Sheba (1965). A genetic study of stub thumb among various groups in Israel. J. Med. Genet. 2, 1 15-121.
HEART-HAND SYNDROME II Holt, M. & S. Oram (1960). Familial heart disease with skeletal malformations. Br. Heart J. 22, 236-242. Poznanski, A. K., J. C. Gall & A. M. Stern (1970). Skeletal manifestations of the HoltOram syndrome. Radiology 9445-53. Poznanski, A. K., S. M. Garn, J. C. Gall & A. M. Stem (1972). Objective evaluation of the hand in the Holt-Oram syndrome. Birrh Defects OAS VIII (9, 125-131. Ruidze la Fuente, S. & F. Frieto (1980). Hearthand syndrome 111. A new syndrome in three generations. Hum. Genet. 55, 4341.
113
Temtamy, S. & V. McKusick (1978). The genetics of hand malformations. Birth Defects OAS XIV (3), 241-244. Address: Margherita C. Silengo M.D. Istituto di Discipline Pediatriche Universitd di Torino Piazza Polonia 94 10126 Torino Italy
