J. ment. Defic. Res. (1982) 26, 91-99

DERMATOGLYPHIC ANALYSES OF 24 INDIVIDUALSWITH THE PRADER-WILLI SYNDROME

ARABELLA SMITH and EUNICE SIMPSON

Cytogenetics Unit, Oliver Latham Laboratory, Health Commission of New South Wales,Sydney, Australia

I N T R O D U C T I O N

Since the first report ofthe Prader-Willi syndrome (PWS) by Prader, Labhart & Willi(1956) over 160 cases have been reported. In a few of these cases, dermatoglyphic datawere presented, such as the two cases of Cohen & Gorlin (1969) and nine cases ofLaurance (1967). From these early case reports, it appeared that there was an excess ofwhorls on the fingertips and hypothenar patterns on the palms with a high axialtriradius as listed by Gellis & Feingold (1967). The significance of these findings wasdiminished by the fact that the numbers were small, most of the patients were males,and those with a chromosome abnormality (such as case 2 of Cohen & Gorlin, 1969)were included in the data. Chromosome abnormality very frequently affects develop-mental ridge patterning (Carpenter ef a/., 1981; Polani & Polani, 1969; Dallapiccola,Bagui & Pistocchi, 1972; Schaumann & Alter, 1976).

In 1975, Holt studied in detail the dermatoglyphic parameters of 13 patients withPWS and considered that these patients as a group had normal dermatoglyphic fea-tures, although there was a suggestion of increased fingertip whorl patterns anddecreased finger and hallucal pattern intensities. A larger study was indicated.

We present here the dermatoglyphic features of 24 individuals with PWS.

M E T H O D S

Patients

Only those patients who had been assessed by at least two specialist physicians, and whohad unequivocal PWS, were included in this study. The criteria listed by Fraecaro,Zuffardi & Buhler (1979) were fulfilled in each case and cases of short stature/obesityand hypogonadism alone were not included. In each of these patients chromosomeanalysis, with G and C banding (Smith, Fraser & Shearman, 1981) showed a normalkaryotype. The dermatoglyphics ofone female with an abnormal karyotype (Robert-sonian translocation 14; 15—Smith & Noel, 1980) and one male with karyotype47,XXY were not included in this report. A total of 24 cases were included in thestudy—14 males, 10 females. The patients were aged between three and 22 years andwere either of Australian or North European origin.

Received 20 January 19820022-264X/82/0600-0091$02.00© 1982 Blackwell Scientific Publications 91

92 ARABELLA SMITH and EUNICE SIMPSON

Dermatoglyphics

Dermatoglyphics were performed using standard procedures with Hollister stamp pador the black ink method. Prints were taken from the finger tips (rolled impressions),palms, great toe and hallucal areas. Control data for the finger tip pattern frequenciesand total finger ridge count were obtained from the 500 Australasian children studiedby Purvis-Smith & Menser (1973). While controls for pattern intensity index (PII)come from the Australasian data of Singh (1969), control data for palmar formulae,main line terminations, main line index (MLI) and position ofthe axial triradius werieobtained by us from a study of 100 male and 100 female Australasian palms (part ofthecontrol data of Purvis-Smith & Menser). We do not have Australasian control data forthe great toe or hallucal patterns, and this data is presented in Table 5 without furtherstatistical analysis. Complete bilateral plantar formulae are available for six PWSfemales and seven males and can be obtained from the authors on request. Terminologyused follows that of Schaumann & Alter (1976) (based on Cummins & Midlo, 1961).

Statistical analysis of the data was undertaken using standard procedures (Bishop1968)—viz. Student's t test, x^ test, and Fischer's exact test when applicable.

RESULTS

Fingertip dermatoglyphic analyses

The results of fingertip pattern distribution for each of 14 males and 10 females withPWS is shown in Table 1 and the frequency distribution of patterns compared withcontrols in Table 2. Statistical analysis showed a difference between the PWS indi-viduals and controls in the frequency of ulnar loops, which were decreased in the PWSindividuals, (x^ = 6.31,/'<0.02). This was counterbalanced in the males by an increasein whorls (x^ = 7.5, P<0.01) while in the females, it was counterbalanced by a slightincrease in both whorls (x' = 5.2, P<0.05) and arches (x' = 4.8, P<0.Q5).

The mean total finger ridge count (TFRC; Table 2) was not significantly differentfrom controls. The mean pattern intensity index (PII) for male PWS was 13.7 withrange from 9 to 18, compared with mean 12.25 ± s.d. 3.64 from control males; the PIIfor female PWS was 12.2 (range 7 to 20) compared with mean 11.41 ± s.d. 3.62 forfemale controls (Singh, 1969).

Palmar dermatoglyphic analyses

The results of analysis of the main line terminations, position of axial triradius andpalmar formulae are given in Table 3, and frequency distribution of some of this datacompared with controls is shown in Table 4.

There was no statistically significant difference in any position of the axial triradiusin the PWS patients compared with Australian controls. Main line A terminating inposition I on the left palm of PWS males occurred more frequently than in controls,which was significant, (x^ = 8.75, P<O.Ol). This effect was not present on the rightpalm of the males or for left and right palms of the females (left palm of females x^ =2.95, P<0.1; not significant). By totalling the low main line A terminations, i.e.position 1 +2 +3, 53.8 % of PWS males showed a low main line A termination on the left

DERMATOGLYPHIC ANALYSES 93

palm compared with 32 % of controls. This effect is not evident on the right palms of thePWS males which were similar to the right palms of the control males. In females theeffect is evident bimanually, main line A terminating low in 60% of left PWS palms

Table 1. Finger tip patterns and TFRC

Sexino.M 1M 2M 3M 4M 5M 6M 7M 8M 9MIOM i lM 12M13M 14F 1F 2F 3F 4F 5F 6F 7F 8F 9FIO

VLWLWLLLLLWLLLLLTWLLWLLLW

IVLLLWLLLLLLWLWLLAWLLWWLLL

LeftIIILWWWTLLLTLWLLWLAWLLWWALL

/ /LWL'LLLWLL'WWWLWL'AWLAWWWTL

ILLWLWWLAWWWWLWLLWLAWWLLL

/WLWWWWLLWWWWWWLWWLLWWWLL

/ /L'LWWLWLTL'WWWLWL"̂LWLAWWL'TL

RightIIILWLWLLLLLLWLLWLALLLWLALL

IVLLWWLLWLLLLLWWLWWLLWLWTW

VLWLWLLLLLWLLLWLAWLLWLLLL

TFRC12011617718792

13215463

1131422161701541687517

170U l35

182142132103113

L = ulnar loop; L'' = radial loop. T = tented arch. W = includes concentric, spiral and doubleloop whorls. A = simple arch.

Table 2. Frequency of finger pattern types

MalesPWS%

Controls%

FemalesPWS

Controls%

A

43

153

14-

234.6

U

43

326.4

5

255

L"

7654

34268.4

49

33567

W

5640

11122.2

32

11723.4

Totalfingers

140

500

100

500

MeanTFRC

143(63-216

range)142±50

108(35-182

range)127+50

L" = ulnar loop.

94 ARABELLA SMITH and EUNICE SIMPSON

Table 3. Palmar formulae of 24 PWS subjects

Sex/no.M 1M 2M 3M 4M 5M 6M 7M 8M 9M 10M 11M 12M 13M 14F 1F 2F 3F 4F 5F 6F 7F 8F 9F 10

911799

Plaster11/11

1179

111199999

119

11/79999

9115"

X7on7X

5"9997777

X9

XX

7775"

5"X

5'5'5"

wrist and775'5'7743"5"5'475'745'5"5"

14111palm343444"3234"3415'1142

Left- t -

-t-t'"-- t -- t -- t -

- t -- t -- t -- t -- t -- t -- t -- t -- t -- t -- t -- t -

-t-t--t'-- t -

-t'-t'-f-- t -

-t-t""-

A"L7L''

A"A^/A"

A"

A u

A"A"A u

A u

L rA"L"'A"L 'A"L--

L^L"'L"̂L--W"

A u

A"/Ao

A"'OA"'A 'A '

A''A'/V

A'L''VA"̂L"A=A 'A^A--A--A--A'-

A'-A"-A^

OTOOO

OOOOOOOO

oooooooooo

oL"

oTO

OTOL"L"L"OO

oL"TL"TTOOOO

L"OL"OL"-

Lo/WOL"OO

oL"L"L"VL"O

oL"L"L"L"L"

V=Vestige. Notation sequence—D, C, B, A termination, followed by position of t andthen pattern in hypothenar, thenar li, I2JI33 14 areas. The T termination has been omittedin this table, as it was in the 13-13' position in all cases except right M12 and right M14where there was no axial triradius and also in those palms where the main line A terminatedin the thenar area. In these cases T terminated in position 11.

DERMATOGLYPHIC ANALYSES 95

Table 3. {com.)

Right11 X 7 5' - t - A» A' O T O11 11 9 1 - t- t '»- L" A' L" O O7 5' 4 3 - t - A" A^ O O L"

II X 7 4 -t '"- A-ZA" A' O T O791111

11/111111111199117119

11/1197117

5'7011799907095'9X975"75"

55'0977775'45"75'75'775'75'

45'45'4"4/45'5'41.

244"414"5'215'2

-t--t--t--t--t--t-__••__

- f --t-- f --t--t--t--t--t--t--t'"--t--t-

A"A"A"A»L'A»A»A--A^0A"L--A"L-̂

L'/L'L'A^A"A"

A "/A"

A^A^A'A'A'A'A'A'L'0A'A--A'A--A'A--A--A--A--A'

00000L"00000000000000

0L"AL"L"L"L"L"0L"0L"0L"TL"0000

L--000V0000000L"00L"L"L"L"L"

96 ARABELLA SMITH and EUNICE SIMPSON

Table 4. Frequency of some palmar traits in PWS and Australian controls

MalesPWS%Controls%

FemalesPWS%Controls%

Hypothenar patterns

Lefi

32325

66040

Right

21428

44032

MLA terminationin thenar area (1)Lefi

4306

33011

Right

174

220

0

Normal axial*triradius (t)

2281.515678

1470

13668

Total palms

27t

200

20

200

*Left and right data pooled as there were no statistically significant bimanual differences in thecontrols.tExcludes left palm of patient M5.

compared with 31% of controls, and 40% of right PWS palms compared with 6% ofcontrols. There were no differences between the presence or absence of patterns in thehypothenar, thenar U, la, I3 and I4 areas of either sex on either hand of the PWSsubjects as compared with the controls.

None of the mainline B, C or D terminations of the PWS differed from the controlsfor the right or left palm of either sex and there were no differences between patientsand controls for an absent C triradius or an abortive C triradiant. As there were nostatistically significant bimanual differences among the controls for summed ab Ridgecounts (abRC), the abRC data of the PWS patients have been pooled for each sex. Thefindings for the PWS subjects was not different to that of controls.

The main line index (MLI) for the PWS subjects was compared with controls.There were no significant differences between the patients and controls for thisparameter.

Table 5. Plantar dermatoglyphics of 23 PWS subjects

PatternsGreat toe

Hallucal

SexM

F

M

F

RightllefiRLRLRLRL

No.

12t139t9

14141010

L*87999755

W*35

5754

A11

1

*Includes: —W'"" , W"' , W% W"; —L% L' , L' .t Dermatitis on great toe of one male and one female bilaterally and one male on right obscuredthe dermatoglyphic patterns.

DERMATOGLYPHIC ANALYSES 97

A true simian crease was not present in any palm of a PWS subject and no Sydneyline was detected. There were four transitional simian creases present (bilaterally in onemale and one female)—an incidence of 8.7%. This is not different from the 7%frequency of true simian crease in 500 controls.

Plantar dematoglyphics

Great toe and hallucal patterns ofthe PWS subjects are shown in Table 5. The hallucalpatterns are not in any way characteristic as, for example, the A' is in Down's syndrome(Preuss 1977). A sandal crease was present in four feet (right and left ofone male and onthe right of one male and one female).

D I S C U S S I O N

It is not unreasonable to speculate that the PWS could be associated with dermato-glyphic abnormality, as the disproportionately small hands and feet of these individualsreflect a growth disturbance in prenatal life which also could affect normal ridgepatterning. Other congenital anomalies ofthe extremities are associated with abnormaldermatoglyphic parameters (Schaumann & Alter, 1976). Furthermore, other syn-dromes, not associated with chromosome abnormality, have been .shown to have somecharacteristic dermatoglyphic features, such as Sotos' syndrome (Nevo et al., 1974),Smith-Lemli-Opitz syndrome (Smith, 1976) and Rubinstein Tabyi syndrome (Atasu,1979). On these assumptions, our results are disappointing.

We have examined the dermatoglyphics of 24 chromosomally normal PWS patientsand did not find any features which were outstandingly different from Australiancontrols. There were two features whose frequencies were different from controls, atborderline significance. One was the decrease in ulnar loops of the fingertips in bothsexes, with ah increase in whorls in males and an increase in whorls and arches infemales. The increase in whorls has previously been noted in all other studies. Thesecond was the increased frequency of main line A terminating in the thenar area on theleft palm ofthe males. This has not been mentioned before in other studies.

Our findings provide more data on the dermatoglyphics ofthe PWS which supportssome previous suggestions, e.g. increase in whorls; negates others, e.g. high axialtriradius, increased hypothenar patterns; and presents new data, e.g. MLA termina-tion. In previous studies the numbers were small, the data from males and females werefrequently combined, chromosomally abnormal patients were included and thesefactors may have affected the expression of statistical significance. While our datasupports the conclusion of Holt (1975) that there are no specific features useful for thediagnosis ofthe PWS, further studies on carefully selected patients are still indicated.

A C K N O W L E D G E M E N T S

We thank: Dr M. Burgess (Children's Medical Research Foundation, Sydney) for theuse of her previously collected prints for our palmar control data, and for helpfuldiscussion: the PWS Association of Australia, both Sydney and Melbourne Branch, for

98 ARABELLA SMITH and EUNICE SIMPSON

help in gathering patients for the dermatoglyphic procedures: Dr S. Singh (SydneyHospital) for his help.

S U M M A R Y

Dermatoglyphic parameters of 24 PWS individuals, 14 males, 10 females, wereexamined using standard techniques. Nomenclature followed that of Schaumann &Alter (1976). There were no differences found in the position of the axial triradius or thefrequency of hypothenar patterns, but there was a decrease in fingertip ulnar looppatterns in both sexes with an increase in whorls in males (P<0.01) and whorls andarches in females (P<0.05). In males, the main line A terminated in the thenar area onthe left palm more frequently than in the controls (P<0.01) and generally the main lineA terminated low in both sexes. The total finger ridge counts were not different fromcontrols indicating smaller than usual pattern size. Of 48 hallucal patterns, 26 wereloops, 21 were whorls and there was one arch. This study confirms previous data thatthere are no pathognomonic dermatoglyphic distortions in PWS.

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