five families with mohr-wriedt type brachydactyly of the index finger

Cong. Anom., 30: 29-31,1990

Original

Five Families with Mohr-Wriedt Type Brachydactyly of the

Index Finger

Takayuki MIURA Department of Orthopaedic Surgery, School of Medicine, Nagoya University 65 Tsuruma-cho, Showa-ku, Nagoya, 466, Japan

ABSTRACT Twelve patients with inherited shortening of the middle phalanx of both index fingers were found in 122 patients with congenital clinodactyly without any major hand anomalies. The morbidity rate in females was 53.6% and in male it was 50.0%. Webbing between the second and third toes was found in three, and clinodactyly of the second toe in four. Characteristic features of this anomaly are a short and delta-shaped or rhombus-shaped middle phalanx of the index finger. Hand pattern profiles revealed that the middle phalanges of the long and ring fingers are shortened to a variable degree. Key words: human, heredity, index finger, delta-shaped phalanx, brachyphalangy, clinodactyly

Shortening of the middle phalanx of the small finger (brachy-mesophalangy V) or clinodactyly of the small finger are common congenital anomalies of the hand.

Shortening of the middle phalanx of the index finger (brachy-mesophalangy 11) associated with major hand anomalies such as syndactyly, cleft hand and symbrachydactyly is relatively common. However, brachy-mesophalangy I1 without any other associated congenital hand anomalies (type A-2; Bell, 195 1) is an extremely rare condition (Sugiura, 1985).

In our clinic, 122 cases of congenital clinodactyly without any major hand anomalies were register- ed within the last 20 years. In 27 of those cases, clinodactyly of the index finger was found. Four of those cases had an extra bony projection at the head of the proximal or middle phalanx, and the cause of bending was not shortening of the phalanx but that extra bony projection. Shortening of the index middle phalanx was found in 23 cases, and the anomaly in six of them was not an impediment at the epiphysis of the middle phalanx. Seventeen cases had the typical features of brachy-mesophalangy. In five cases, shortening of the middle phalanx was found not only for the index finger but also for the small finger (brachy-mesophalangy 11, V; This type of brachydactyly does not fit Bell’s classification). In the remaining 12 cases, the shortening of the middle phalanx was found only for the index finger (Bell’s type A-2). These 12 cases of brachy-mesophalangy I1 without any other hand anomalies were diagnosed as Mohr-Wriedt type Clinodactyly (Mohr and Wriedt, 19 19).

30 T. Miura

1. 5

, / , /

1. 2 I \ <------ - /

0.9 Case A

- - left hand 15-year-o Id female

0. 6

1. 5

1. 2

0.9

0. 6

, / , / I \

r.. . .-I

Case A

- - left hand 15-year-o Id female

0.3 I

0- T I L R S I T I L R S / I L R S / I L R S

me tacarpa 1 proximal phalanx middle phalanx istal phalanx

Fig. 1 Hand pattern profile of case A

CASE REPORTS

Case A. A fifteen-year-old female came to our clinic with clinodactyly of both index fingers. She was the sixth born of a normal pregnancy. Anteroposterior roentgenograms showed shortening of the middle phalanx of both index fingers. This shortened middle phalanx was delta-shaped. While all other phalangeal and metacarpal bones of the hand were apparently normal. Hand pattern profiles (Poznanski et al., 1972; bone length of the affected hand divided by bone length of the standard in Japanese; Uetake et al., 1986) revealed that the middle phalanges of both long and ring fingers were shortened (Fig. 1). The bilateral second and third toes were webbed. The same anomalies were found in three of six siblings, the father and one of three aunts. Case B. An eight-month-old female, the second child of Case A, was brought to our clinic with bilateral clinodactyly of the index fingers. The middle phalanx of both index fingers was short and rhombus-shaped. There were no anomalies in the feet. Hand pattern profile revealed that the middle phalanges of both long and ring fingers, while appearing normal in length, were actually short (Fig. 2). Case C. A thirty-year-old female, the sister of Case A and the mother of Case D and E, came to our clinic with brachydactyly of both index fingers. She was second born of a normal pregnancy.

Mohr-Wriedt type brachydactyl!

0. 6

0. 3

0 -

31

1.5 j

1. 2

- - left hand affected hand/standard

' I L R S I T I L R S / I L R S I T I L R S me tacarpa 1 proximal phalanx middle phalanx distal phalanx

Figure 2

The delta-shaped middle phalanx of both index fingers was removed when she was young. Hand pattern profiles revealed that the middle phalanges of both long and ring fingers and distal phalanges of both thumb were short, too (Fig. 3). Case D. A five-month-old male. the nephew of Case A and the son of Case C. presented ~ i t h bilateral clinodactyly of the index fingers. He was the second born. of nornial pregnant)'. and his mother had the same anomaly. The middle phalanges of both index fingers were delta-shaped. Hand pattern profiles revealed that all the middle phalanges, while appearing normal in length. were actually short (Fig. 4). Clinodactyly was found in the bilateral second toes. Case E. A three-month-old female, the sister of Case C, presented with bilateral clinodactyly of the index fingers. She was the third born. of a normal pregnancy. The X-ray findings were the same as those for her brother. The middle phalanges of both index fingers were delta-shaped. Clino- dactyly was also found in the bilateral second toes.

Case F. A 34-year-old female, the mother of case G? came t o our clinic with clinodactyly of both index fingers. The middle phalanx of both index fingers was rohmbus-shaped. Case G. A six-year-old female presented with bilateral clinodactyly of the index fingers. She was the first born, of a normal pregnancy, and her mother (Case F) had the same anomaly. X-rays

The family pedigree of Cases A - E is shown as Family I (Fig. 5).

3 2

1. 5

1. 2

0. 9

0. 6

0. 3

0

T. Miura

- - h% ......

Case C

30-year-o Id female

affected hand/standard - right hand

left hand

both middle phalanges of the index fingers were r e m n e d

1. 2

Case D

0. 6 seven-year-old male

affected hand/standard

0. 3 left hand

0; T I L R SIT I L R S / I L R SIT I L R S

me tacarpa 1 proximal phalanx middle phalanx distal phalanx Fig. 4 Hand pattern profile of case D

3 3

0 0 n o

Family I

Mohr-Wriedt type brachydactyly

-

n o m o

0 0 0

Fami l y 11

Family HI

0 0 0 0

& L__rJ o& eL

Family V

@ affected persons: anomalies arc not confirmed

@ countered persons without anomalies

Fig. 5 Pedigrees of five families with Mohr-Wriedt type bracydactyly

showed shortening of the middle phalanx of both index fingers. These shortened phalanges were rhombus-shaped in right and delta-shaped in left (Fig. 6 ) . The middle phalanges of the long and ring fingers, while appearing normal length, were actually short. Clinodactyly of the bilateral index fingers was found in her mother (Case F) and grandfather. The family pedigree of Case F and G is shown as Family I1 (Fig. 5). Case H. A 34-year-old male, the father of Case I and J, came to our clinic with clinodactyly of both index fingers. He was second born, of a normal pregnancy with three normal siblings. The middle phalanges of both index fingers were short and delta-shaped. Clinodactyly and symphalangy of the second toes was found. Case I. A three-year-old female presented with bilateral clinodactyly of the index fingers. She

34 T. Miura

l.ig. 6 Delta-shaped middle phalanx (left hand), Rhombus-shaped middle phalanx (right hand)

was the first born, of a normal pregnancy, and her father (Case H) had the same anomaly. X-rays showed shortening of the middle phalanx of both index fingers. These shortened phalanges were delta-shaped. Clinodactyly was found in the second toes of both feet, and middle phalanges of both second toe were delta-shaped. Clinodactyly of the bilateral index fingers was found in her father (Case H) and greatgrandmother. It is uncertain whether her grandfather had the same anomaly. Case J. A two-year-old female, the sister of Case I, presented with bilateral clinodactyly of the index fingers. She was the second born, of a normal pregnancy. The X-ray findings were the same as those for her sister. The middle phalanx of both index fingers was delta-shaped. The middle phalanges of both long and ring fingers, while appearing normal in length, were actually short (Fig.

7). The bilateral second and third toes were webbed. The middle phalanx of both second toes was delta-shaped. The family pedigree of Case H, I and J is shown as Family 111 (Fig. 5 ) . Case K. A seven-year-old female presented with bilateral clinodactyly of the index fingers. She was the first born, with two normal siblings, and her father had clinodactyly of the bilateral second toes. These shortened phalanges were rhombus-shaped. Hand pattern profile revieled that the middle phalanges of both long finger, while appearing normal in length, were actually short. The second and third toes of both feet were webbed.

X-ray showed shortening of the middle phalanges of both index fingers.

Mohr-Wriedt type brachydactyly 35

1. 5

1. 2

0.9

0.6

0.3

0

seven-year-old female

affected hand/s tandard

T I L R SIT I L R S me tacarpa 1 proximal phalanx

Figure 7

Case L

18-year-o Id f e m l e

1. 5

1 .2

0.9

0.6

0.3

0

affected hand/standard

I L R S middle phalanx

I L R S distal phalanx

Case L

18-year-o Id f e m l e - right hand

- - - left hand

T I L R S metacarpal

T I L R S proximal phalanx

I L R S middle phalanx

-

T d

J

I L R S stal phalanx

Figure 8

36 T. Miura

Table 1 Cases of Mohr-Wriedt type brachydactyly

Age at Shape of middle phalanx Complication Cases Sex

first visit of the index finger of the toes

A

€3

C

D

E

F

G

H I

J

K

L

15-year-old

8-month-old

30-year-old

5-month-old

3-month-old

34-year-old

6-year-old

34-year-old

3-year-old

2-year-old

7-year-old

18-year-old

female

female

female

male

female

female

female

male

female

female

female

female

delta-shaped (bilateral)

rhombus-shaped (bilateral)





rhombus (right), delta (left)






webbing between 2, 3

clinodactyly of 2

clinodactyly of 2

clinodactyly of 2

clinodactyly of 2



symphalangy of 2

Clinodactyly of the bilateral index fingers was found in the greatgrandfather and a sister of the grandfather. Webbing between the second and third toes was found in a cousin. The family pedigree is shown as Family IV (Fig. 5). Case L. An 18-year-old female came to our clinic with bilateral clinodactyly of the index fingers. She was the first born, of a normal pregnancy, and her father had the same anomaly. X-ray showed shortening of the middle phalanx of both index fingers. These shortened phalanges were delta- shaped. The middle phalanges of both long and ring fingers, while appearing normal in length, were actually short (Fig. 8). There were a symphalangy of both second toes. Clinodactyly of the bilateral index fingers was found in two uncles and one aunt. The family pedigree is shown as Family V (Fig. 5).

DISCUSSION

Clinodactyly with brachy-mesophalangy I1 (type A-2 brachydactyly; Bell, 195 1) was first reported by Mohr and Wriedt (1919). We have diagnosed 122 patients with clinodactyly without any other anomalies, and 12 of them had Mohr-Wriedt type brachydactyly. Those 12 patients, in five families, were observed within the last 20 years. All the patients came to our clinic with complaints of clinodactyly of the bilateral index fingers. Ten out of 12 patients in this series (15 out of 24 patients in total of five families except two cousins of Case K) are females. Although the morbidity rate is apparently higher in females, the rate calculated in inherited pedigree of five families, in females is 53.6% (15 out of 28 females), while in males it is 50.0% (nine out of 18). It has been believed that Mohr-Wriedt type brachydactyly is on inherited autosornal dominant trait. The family pedigrees

Mohr-Wriedt type brachydactyly 37

of the 12 patients show autosomal dominant inheritance (Mohr and Wriedt, 1919; Freire-Maia et al., 1980) (Fig. 5). As associated anomaly webbing between the second and third toes and clinodactyly of the second toe have been reported. In this series, webbing between the second and t h r d toes was found in three (Fig. 2), and clinodactyly of the second toe in three. Freire-Maia et al. (1980) reported that in a pedigree of Mohr-Wriedt, 18 of 117 patients had anomalies o d y on the feet. The father of Case K had no anomalies on the hand, but his second toe showed clinodactyly. Though I could not grasp the meaning of the heredity, in two maternal cousins of Case K, webbing between the second and third toes was found.

Trisomy 20, reported by Lucas et al. (1985) was not found in our 12 patients. These cases reported by Lucas et al. should be grouped into another category, because the cases had not only shortening of the middle phalanges of the index finger, but many other combined abnormalities such as round face, upslanting palpebral fissures, rnicroretrognathia, slight psycho-motor retardation and conge nit al heart defects.

The characteristic features of Mohr-Wriedt brachydactyly are a short and delta-shaped or rhombus- shaped middle phalanx of the index finger (Fig. 3). A delta-shaped middle phalanx was found in 17 index fingers of nine patients, and rhombus-shaped middle phalanx was found in seven index fingers of four patients.

It has been believed that shortening in Mohr-Wriedt type brachydactyly (Bell’s type A-2) is limited to the middle phalanx of the index fingers. However, hand pattern profiles of our patients show that for the other fingers as well, the length of the middle phalanges of the long and ring fingers are shortened to a variable degrees, but the degree of shortening of the long and ring fingers was much milder than the Farabe type of brachydactyly.

REFERENCES

Bell, J. (195 1 ) On Brachydactyly and Symphalangism. University Press Cambridge, England, Vol. 5, Part 1 , pp. 1-31.

Freire-Maia, N., Maia, N.A. and Pacheco, C.N. (1980) Mohr-Wriedt (A-2) brachydactyly; analysis of a large Brazilian kindred. Human Hered., 30: 2 2 5 - 231.

Lucas, J., Le Mee, F., Le Marec,B., Pluquailec, K., Journel, H. and Picard, F. (1985) Trisomie 20 p derivee d’une inversion pericentrique maternelle et brachymesophalangie de I’index. Ann Genet., 28: 167-171.

Mohr, O.L. and Wriedt, C. (1919) A New Type of

Hereditary Brachyphalangy in Man, Carnegie Institute, Washington.

Poznanski, A.K., Garn, S.M., Nagy, J.M. and Gall, J.C. Jr. (1972) Metacarpo-phalangeal pattern profiles in the evaluation of skeletal malfornia- tions. Radiology, 104: 1 - 1 1 .

Sugiura, Y. (1985) Skeletal Age of the Japanese, Chuugaiigaku Co., Tokyo. (Japanese)

Uetake, M. and Karnata, M. (1986) Radiographic research on skeletal measurements and morpho- logy of normal hand of Japanese. Part 2: Child (growth stage). J . Jpn. Orthop. Ass. 60: 307- 322.

five families with mohr-wriedt type brachydactyly of the index finger

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