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Home , Camptodactyly, Hammer toe

J Med Genet: first published as 10.1136/jmg.3.2.104 on 1 June 1966. Downloaded from

J. med. Genet. (I966). 3, I04.

Hereditary of the Fingers (Camptodactyly) J. PHILIP WELCH and SAMIA A. TEMTAMY ,From the Division of , Department of Medicine, J'ohns Hopkins Hospital and J7ohns Hopkins University School of Medicine, Baltimore, Maryland, U.S.A. The occurrence of congenital contractures of the at other joints. Some authors (Schaff and Schafer, fingers, with apparent distinctions from the classic I948) have reported an associated difficulty of Dupuytren's , has been recognized abduction and adduction, but this is probably a for well over a hundred years (Tamplin, I846). mechanical result of flexion at the proximal inter- Despite a considerable volume of early work on phalangeal joint. -the subject, particularly around the turn of the It seems likely that the condition is not excessively century, the condition seems to have been ignored rare but is frequently unrecognized, or classified and gradually forgotten, so that it now does not either as Dupuytren's contracture or as an old receive mention in most texts of general , teno-synovitis. and Barsky (I958) does not include it in his standard Present interest in this condition was generated text on the hand. Boyes (I964) and Souttar and by its chance finding in the proband (J.M., JHH Goligher (I958) make passing reference to its 496766) during examination for a probably un- -occurrence and Hamilton Bailey (I960) has a related condition, essential hypertension. The photograph of a case. Stern (I957) discussed the clinical findings in the proband's family, and in possibility of holandric inheritance in this con- certain other cases we have subsequently seen, are and the reports are .dition, though many early papers (see Table) presented, published http://jmg.bmj.com/ testify to a fairly clear-cut dominant pattern of reviewed in an attempt to renew awareness of the inheritance. condition and of other anomalies with which it The condition is characterized by a limitation may be associated, and to make some suggestions -of extension at the proximal interphalangeal joint, regarding its relationship to Dupuytren's contrac- -without limitation of flexion, typically accom- ture. panied by hyperextension at the metacarpo- phalangeal joint, and sometimes at the terminal

interphalangeal joint. The little finger is the most Present Investigation on September 29, 2021 by guest. Protected copyright. frequently affected though any finger may be The affected members of the family are as noted involved (usually in addition to involvement of in the pedigree (Fig. i). Each stated that he had the little finger); contracture bands may frequently had the condition as long as he could remember be felt beneath the skin on the volar surface of the and that there had been no progression. affected joint and the transverse skin creases in The affected fingers were as described above, -this location are invariably lost. The thumb and and it may be stressed that flexion within the other finger joints rarely if ever show contractures. limited range was quite normal. (This provides a When the condition is bilateral, the hands usually point of differentiation from an old teno-synovitis.) show similar degrees of involvement. While the There is thus no fusion of the joint, as a cursory condition may be present at birth, it seems likely inspection of an antero-posterior radiograph might that it may often arise in early childhood. Pro- suggest and as has been proposed by others (Schaff gression is usually slight and occurs only during and Schafer, I948). The degree of limitation of -the first two decades; incapacity is also slight, flexion is unaffected by the position of the wrist, largely due to the 'compensatory' hyperextension indicating that the impairment is not due to shortening of the long flexor tendons as has been Received September 13, I965. suggested (Davis and Finesilver, I932) and as 104 J Med Genet: first published as 10.1136/jmg.3.2.104 on 1 June 1966. Downloaded from

Hereditary Contractures of the Fingers (Camptodactyly) I05

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II 1 2 3 14 9 10

III E

IV (?E (Ee(() I (t)E E E E 1 12 3 4 5 6 7 8 9 10 11 12

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1 2 3 4 5 6 7 8 9 10 Unaffected E Personally examined

* Affected \ Deceased Reputedly affected w Proband (JHH 496766)

FIG. I- is sometimes given as a point of differentiation right and left index. The right hand was more affected from Dupuytren's contracture. than the left. On the right, the ring and fifth fingers As other authors have remarked, the impression were most affected, extension being limited to I40-I450.

There were over the proximal inter- http://jmg.bmj.com/ is of a 'tightness' of the volar skin and underlying phalangeal joint on both index fingers, also on the middle tissue over affected contracture the joint. Any fingers and the right ring finger (see Fig. 3). Radiographs bands must be firmly adherent to the overlying of the hands did not show any bony abnormality;. skin, though there is no puckering of the skin in particular the heads of the proximal phalanges. nor are there any palpable bands, skin nodules, appeared normal. Radiographs of the feet showed no etc. in the palms of any case in this family. Only abnormality. the proximal interphalangeal joint was affected, IV.2: niece of the proband, aged 32, had only right the feet were clinically normal in the case of all fifth finger affected. on September 29, 2021 by guest. Protected copyright. those examined, and there was no family history IV.II: son of the proband, aged 32, had fifth and affected bilaterally and had no knuckla of any other or of No ring fingers joint disability epilepsy. pads. members of this family showed , , ptosis, or hypogonadism. Discussion Case Reports Nomenclature. Most of the early references II.4: mother of the proband, aged 82, had all four refer to the condition simply as congenital con- fingers of the right hand affected, also the left middle tractures of the fingers (Tamplin, I846; Neuhof and ring fingers. The middle finger of right hand was and Oppenheimer, I914; Forrester-Brown, I929) the most affected, extension being limited to I35° (see or as congenital Dupuytren's contracture (Keen, 'Knuckle pads' were present over the dorsal Fig. 2). It may that con- surface of the proximal interphalangeal joints of both I882; Greig, 1917). be noted index fingers. tractures mentioned by Dupuytren (I854) in two III.i: brother of the proband, aged 64, had only young girls (one aged 4) and a I4-year-old boy, fifth fingers affected bilaterally, with no knuckle pads. were probably cases of camptodactyly, and were III.2: proband, aged 62, had limitation of extension apparently recognized by Dupuytren as a distinct at proximal interphalangeal joints of all fingers except entity, though attributed by him to 'deformity J Med Genet: first published as 10.1136/jmg.3.2.104 on 1 June 1966. Downloaded from

io6 Welch and Temtamy

FIG. 2. Hands of II.4. Note the characteristic hyperextension at the metacarpophalangeal joints. of the articulations'. Dupuytren also reported the i885). Subsequently, various descriptive terms have occurrence of familial contractures of the (see been applied such as 'flexed fingers' (Spear, 1946) 'hammer toes' below). and 'hammer fingers' (Whitman, I930), and in In i885 Landouzy introduced the term 'campto- I929, Hefner, describing a family in which only dactylie' or camptodactyly (Lucas-Championniere, the fifth fingers were involved, coined the term http://jmg.bmj.com/ on September 29, 2021 by guest. Protected copyright.

FIG. 3. Hands of proband III.2. Note the knuckle pads over the proximal interphalangeal joints of the index and middle fingers, and (R) ring finger, obliterating or displacing the normal dorsal joint creases. J Med Genet: first published as 10.1136/jmg.3.2.104 on 1 June 1966. Downloaded from

Hereditary Contractures of the Fingers (Camptodactyly) 107 TABLE ANALYSIS OF REPORTED CASES OF CAMPTODACTYLY

Author Male Female Comments Hester (Ii85I) - I Annandale (I866) 2 I Two of these were a father and 4-year-old daughter Brodhurst (I869) - I Stephenson (I885) 3 - Dominant pattern with skipped generation Adams (I89I) 3 7 Also 2 males in affected families with hammer toes Anderson (I89I) 2 6 7 ascertained from 800 8-14-year-old children Herbert (I898) II 27 Details not given Scott (1903) 2 5 Pedigree shows 2 affected children from consanguineous marriage of normal parents, pattern being otherwise dominant; also varying expression in those affected Henneberg (I908) 6 5 Family study; one male appeared to be an unaffected carrier; one male (with normal hands) had 6 tees (cf. Neel and Rusk, I963) Lotheissen (I909) Is I Mother and son; some operative notes given Neuhof and Oppenheimer (1914) I 3 Dominant pattern of inheritance; operative findings given Greig (I917) I - Infant with finger contractures since birth; parents normal; index, middle, and ring fingers of both hands affected; contracture bands noted and skin involved Gassul (I9I8) - I Reported transmission through 3 generations, but insufficient detail Steindler (I920) - - 2-year-old child with many other congenital deformities; sex not given Fantham (1924) i - Quoted by Stern (I957) as possibly Y linked; not well described, but probably camptodactyly Hefner (1924) 2 - Father and son affected Murphy (I926) 21 12 Not all examined; other anomalies also frequent in family including subluxation of joint and foot anomalies, some similar to that reported by Neel and Rusk (I963) Tomesku (I928) I - Parents normal but uncle had ; some operative findings given Moore and Messina (1936) 2 4 Additional 2 children of unaffected member of family had proximal i.p. joints of ith fingers fixed in extension Ritterskamp (I936) 3 3 4 generations of I family; dominant pattern possibly with some skipping but not all family members examined Nowak (1937) II 2 Some with suggestive contractures not included in figures; family study showing dominant pattern Maurer (I938) 24 7 2I ascertained through examination of 6ooo schoolchildren Stoddard (1939) 4 7 4 generations of I family; dominant pattern Hefner (I941) 4 8 4 generations of I family; dominant pattern Magnusson (1942) I4 14 Not all in one pedigree; one family had only fifth fingers affected Spear (I946) 4 4 Varying expression over 6 generations; dominant pattern; author's own family Schaff and Schafer (1948) 2 - Authors claimed obliteration of affected joint of proband by fibrocalcific changes; proband and maternal grandfather affected Marton and Steinbrocker (I949) 4 No family history given Zumoff (I954) 4 3 Pedigree information from proband only; dominant pattern Neel and Rusk (I963) 8 3 Dominant pattern with possible skipping (not all cases examined); some members of family showed foot anomalies (not hammer toes) Currarino and Waldman (I964) 10 8 Several had other anomalies; a case of Marfan's with camptodactyly also reported Present study 4 5 Well-marked variation of expression; 2 affected showed knuckle pads http://jmg.bmj.com/ Total I6I 142

Not included in this Table, because of insufficient information, are 3 pedigrees given by Allan (1939), which show a total of 5 females and 6 males affected Also excluded are the data of Goldflam-Warschau (I906), since almost all these cases were atypical in that only the distal i.p. joint was involved.

'streblomicrodactyly'. Confusion has been further , sometimes grouping the two together as compounded by Clarkson and Pelly (I962) who 'crooked little fingers' (e.g. Gates, 1946). on September 29, 2021 by guest. Protected copyright. remarked that congenital contractures might affect It is suggested that the original term campto- any of the proximal interphalangeal joints and dactyly should be applied to all cases fitting the that when it occurred in the fifth finger, it was given description, no matter which finger is known as 'campylodactyly'. affected. Camptodactyly should be distinguished from cinodactyly (brachymesophalangy of the fifth finger), the latter referring to a radial curvature Incidence. Most authors who mention the of the little finger, which is often associated with condition comment that it is more frequent in a triangular appearance of the middle phalanx, girls, and this is commonly given as a point of and which is a frequent finding in many unrelated differentiation from Dupuytren's contracture. A , such as Down's syndrome (mongolism) survey of the past literature was made in an attempt and the oro-facio-digital syndrome. to get a more accurate impression of the sex may also occur as an isolated finding, inherited incidence. Results are given in the Table. While as a dominant trait, and is regarded by Bell (I95I) these are hardly a random or unbiased sample, as a type of (type A3). Some they do represent all the reported cases that are authors have confused cinodactyly with campto- likely examples of the condition. Cclearly, on these J Med Genet: first published as 10.1136/jmg.3.2.104 on 1 June 1966. Downloaded from io8 Welch and Temtamy figures, the condition is equally distributed between It should be noted that similar shortening of the sexes. It may be noted that the cases reported collateral ligaments may also be found in severe by Goldflam-Warschau (I906) do not fit into the Dupuytren's contracture (Hueston, I963). If usual pattern, since, in his cases, the distal inter- camptodactyly were similar to Dupuytren's con- phalangeal joint was principally affected. In tracture, it would be expected that the collateral regard to the over-all frequency, a rough indication ligaments would be secondarily involved more is gained from the work of Anderson (I89I) who often in the former condition, since finger contrac- found 7 cases among 8oo schoolchildren, and tures commonly arise during the growing period, Maurer (I938) who found 2I cases among 6,ooo whereas Dupuytren's (i.e. with palmar changes), schoolchildren. Sorrel (I938) reported a case of usually arises only in adult life. 'camptodactyly' of the thumb (bilateral), but in The operative finding of contracted fascial this case the condition was due to a tendon abnor- bands, spanning the volar surface of the joint mality (presence of nodules demonstrated at and thus giving rise to the condition, was noted operation) indicating that this was almost certainly by Jobert and Blandin as long ago as I846 and not the same condition as that under discussion. subsequently by Adams (I89I), Nichols (I899), It is of some historical interest that the suggestion Lotheissen (I909), Tomesku (I928), and Cur- has been made that the model used by Durer in rarino and Waldman (I964). Perhaps the most his famous painting of hands in prayer, was interesting account was that of Lockwood (i886) possibly a sufferer from early Dupuytren's con- who described the dissection of two cases and com- tracture; examination of the painting seems to pared them with a typical Dupuytren's contracture: indicate, however, that the owner of the hands, according to Lockwood, the bands were adherent if he had any abnormality, more probably had to skin, and in a case where the whole hand was camptodactyly. available, the fascial bands extended far into the palm. The only distinction from Dupuytren's Pathology. The nature of the deformity is contracture lay in the greater implication of skin not well known, most of those affected being little and palmar fascia in the latter. One of the finger inconvenienced, so that few cases come to operation contracture specimens was placed in the St. and subsequent pathological examination. This Bartholomew's Hospital Museum (No. I203 B). has given rise to much speculation as to the nature Certain other authors, notably Schultze (1913), of the deformity, usually on scant evidence. Scott have also commented on the similarity to Dupuy- also Magnusson (I942) believed that tren's contracture. (1903) and http://jmg.bmj.com/ the deformity was due to a volar tilting of the heads A search of records at the Johns Hopkins Hos- of the proximal phalanges, but this is not sub- pital disclosed a case which appeared consistent stantiated even by their own radiographs. Others with the theory regarding the relative importance have claimed that there is a subluxation at the of the role played by the contracted subcutaneous affected joint but, as has been pointed out most tissue. This was a 4-year-old white male (K.P. recently by Hueston (I963), when the normal 670983) in whom camptodactyly of the left little joint is flexed the second phalanx rides down finger had been noted from birth. At operation on to the neck of the first phalanx. Greig (1917) only the lateral joint ligaments were divided and the on September 29, 2021 by guest. Protected copyright. and Hefner (1924) believed that the condition finger was forcibly extended. Extension was not was due to contraction of the long or short flexors: retained after operation, and examination now however, examination with wrist flexion readily clearly reveals contracture bands spanning the volar rules out this possibility. It has also been suggested surface of the joint. Clinical examination was that the condition is due to contracture of the otherwise normal and there was no history of any lateral ligaments of the first interphalangeal joint. other affected member of the family. This is largely based on the report of Neuhof and Nichols (I899) described a typical case of con- Oppenheimer (I914) who found it necessary tracture of a single digit at the proximal inter- to divide the lateral ligaments in order to bring phalangeal joint and though admitting that the about extension. However, they also found, and contracture of the digital fascia is analogous to divided, a firm band of fascia over the flexor ten- the 'common' type of Dupuytren's contracture, dons, and their own conclusion was that the he did not feel he could classify it as such. He also condition was brought about by the 'contracted claimed to have seen cases of 'hammer finger' condition of the skin and fascia and partly by the arising in adult life and two cases of 'hammer contracted condition of the articular ligaments by finger' associated with Dupuytren's contracture adopted. shortening during growth' (our italics). (presumably palmar) which he was unable to classify, J Med Genet: first published as 10.1136/jmg.3.2.104 on 1 June 1966. Downloaded from

Hereditary Contractures of the Fingers (Camptodactyly) I09 More recently, Hueston (I963), while remarking between camptodactyly and Dupuytren's con- that typical Dupuytren's contracture may arise tracture. at an early age (e.g. in a i2-year-old male observed There are a few reports of coexistent campto- by him), added that it should not be confused with dactyly and Dupuytren's contracture (Nichols, 'hypoplasia ofthe volar digital structures, commonly I899; Weber, I938; Barinka, I964b), and Skoog symmetrical, in little girls (campylodactylia)'. (I948) noted a Dupuytren's contracture in a However, he goes on to comment that Dupuytren's 74-year-old woman who had had bilateral 'hammer may occasionally manifest as a short interphalangeal toes' since youth (the latter not infrequently found band producing a flexion deformity of the proximal in families and individuals with camptodactyly interphalangeal joint. This band was described '(Adams, I89I, I892; Koenner, I934; Barinka, in some detail and a photograph showed an affected I964b)). These may represent a phenotypic overlap, fourth digit with hyperextension at the metacarpo- but could be simply chance, since Dupuytren's phalangeal joint typical of the 'congenital' contrac- contracture is exceedingly common in later life, ture. possibly as high as I5-20% (Early, I962, I964), It seems reasonable to conclude that Dupuytren's at which time the sex incidence may approach contracture and camptodactyly, though genetically equality (Hueston, I963). distinct, may be related processes with It is now apparent that a number of conditions occasional phenotypic overlap. may be associated with camptodactyly. Foot anomalies other than hammer toes may be found, Associated Conditions. It is now recognized the most striking being a bony outgrowth of the that Dupuytren's contracture is not uncommonly second metatarsal which may be surmounted by associated with other connective tissue anomalies, one, or possibly more, extra phalanges. Externally such as plantar nodules (Conway, I954) and with it may be marked by a curious overlapping of the Peyronie's syndrome (Skoog, I948; Hueston, I963) second and third toes. We have noted this in one of which, a familial instance has recently been female member of a family with camptodactyly reported (Murley, I964). There also seems to (Fig. 4 and 5) who also had fusion of the first and be some association with epilepsy, though its nature second cuneiform bones. The mother and other is not clear (Lund, 194I; Skoog, I948; Early, I962). members of the family had camptodactyly, but no The best documented association, however, is other abnormalities were detected nor was there that with knuckle pads (Garrod, I893, I904; any known consanguinity. Neel and Rusk (I963) White, I908; Lund, I94I; Weber, 1938; Skoog, have also described these features among some http://jmg.bmj.com/ I948), the association being so close that it has been members of a family with camptodactyly, though asserted that those who show this feature always they considered it a separate entity from campto- either have, or later develop, Dupuytren's con- dactyly. Barinka (I964b) has published photographs tracture (McIndoe and Beare, I958). The findings of patients with camptodactyly, which are strongly in the family here reported, however, indicate reminiscent of this foot anomaly, and Murphy that knuckle pads may also occur with campto- (I926) may well have been describing the same

dactyly, the two affected members being of such condition. Henneberg (I908) reported polydactyly on September 29, 2021 by guest. Protected copyright. an age that a 'typical' Dupuytren's contracture of the toes (type unspecified) in a family with would probably have appeared, were it going to camptodactyly. A solitary report (Tomesku, I928) develop. Futhermore, we have since seen knuckle which mentions polydactyly of the fingers in an pads in an affected member of another family uncle of a patient with camptodactyly is probably with camptodactyly, while a photograph in another not pertinent. recent publication (Barinka, I964a, photograph ia) In other instances camptodactyly appears to also suggests the coexistence of knuckle pads. It be part of the pleiotropic clinical spectrum of is of historical interest that Garrod (1904), com- certain genetically determined conditions which menting on the occurrence of Dupuytren's con- otherwise show little phenotypic overlap with tracture in those with knuckle pads, remarked each other. Thus it is well known that campto- that, 'in most instances the puckering in the palm dactyly is not infrequent in Marfan's syndrome, was well marked ... but in one or two there was a genetically determined, dominantly transmitted, merely a fibrous thickening on the palmar aspect generalized connective tissue disorder (Marfan, of the little finger, causing flexion, but without I896; Kallius, 1928; McKusick, I960). any obvious implication of the palmar fascia'. In another disorder, cranio-carpo-tarsal dys- These observations on knuckle pads appear to trophy, first described by Freeman and Sheldon lend substance to the theory of phenotypic overlap (I938), severe camptodactyly is an almost constant J Med Genet: first published as 10.1136/jmg.3.2.104 on 1 June 1966. Downloaded from

IIO Welch and Temtamy

FIG. 4. Radiograph of feet showing bony spurs arising from the proximal portions of the second metatars-i bones. There is also a similar bony spur arising from the distal portion of the right fifth metatarsal with bilateral fusion of the first and second cuneiform bones and also of the middle and distal phalanges of the lateral four toes. Radiographs of other parts of the body revealed a slight thoracic scoliosis but no other skeletal abnormalities. http://jmg.bmj.com/ on September 29, 2021 by guest. Protected copyright.

FIG. 5. Hands of the same patient as in Fig. 4, showing campto- dactyly of the fifth fingers of both hands, more marked on the right. Note the 'band' on the palmar surface of the left fifth finger and the tight appearance of the skin around the distal phalanges of all the digits. J Med Genet: first published as 10.1136/jmg.3.2.104 on 1 June 1966. Downloaded from

Hereditary Contractures of the Fingers (Camptodactyly) III feature, and some familial occurrences suggest an patient and in the sibs described by Hanley and autosomal dominant mode ofinheritance. McKusick (I966) appears attributable to premature Camptodactyly is also a frequent feature of a fusion of this joint-an otherwise uncommon third syndrome, oculodento-digital dysplasia, for sternal malformation (Currarino and Silverman, which the report of Gillespie (I964) of two affected I958). sibs suggests an autosomal recessive mode of inheritance. Aetiology and Conclusions. The aetiology of In addition to the above associations, there is Dupuytren's contracture has long been a subject of evidence that camptodactyly may be a frequent discussion; however, there now seems little doubt accompaniment of a group of other anomalies. that there is a strong genetic influence, the disease Thus Maurer (I938) described 3I cases of campto- frequently being familial (Garrod, I904; Sprogis, dactyly and found a high incidence of other abnor- I926; Schroder, I934; Skoog, 1948; Ling, I96I, malities which he believed to be indicative of a I963). It is now recognized that Dupuytren's con- particular 'constitutional type'. Prominent among tracture is often bilateral (Davis and Finesilver, his findings were funnel chest deformity (17/3I), I932) and may be associated with other disorders slight 'winging' of the scapula (I5/3I), and elevation (see above). of one or other scapula (7/3i). A large number Camptodactyly occurring as an isolated finding were also claimed to show a high-arched palate; is also an inherited condition, the usual pattem and kyphoscoliosis, ptosis, hemi-hypertrophy, and of transmission being that of a dominant trait with were also reported in some cases. a few instances of possible transmission through Barinka (i964a, b) has also noted the association an unaffected individual (non-penetrance) (see with arachncdactyly, contractures of the toes Table). The family presented, and also that and funnel , and published photographs reported by Scott (1903), clearly demonstrate the that appear to illustrate some of the other anomalies variation in severity, and that camptodactyly of described by Maurer in patients with campto- the little finger is not to be distinguished from that dactyly. Steindler (I920) reported the case of a occurring in other digits. 2-year-old child with probable camptodactyly, Camptodactyly also forms part of the spectrum elevation of the left scapula, scoliosis, fusion of the of at least three genetically determined conditions, third and fourth on the left side, and possibly namely, Marfan's syndrome, cranio-carpo-tarsal other anomnalies. dystrophy, and oculo-dento-digital dysplasia. The

Hanley and McKusick (I966) described the possibility of a fourth, previously unrecognized, http://jmg.bmj.com/ occurrence of some of the features described by syndrome in which camptodactyly is one of the Maurer in I938 (pectus excavatum and ptosis) in most constant features, is suggested by the obser- two strikingly similar brothers, one of whom had vations of Maurer (I938), Hanley and McKusick camptodactyly. Also noted in these sibs were (I965), by our findings outlined above, and by , osteochondritis dissecans, mal- Cases 2 and 8 reported by Currarino and Waldman descent of the testes, and, in one, hypogonadism. (I964). This syndrome frequently features pectus Recently Currarino and Waldman (I964) excavatum, mild scoliosis, ptosis, and hypogona- reported I9 cases of camptodactyly. They noted dism. In some instances in which camptodactyly on September 29, 2021 by guest. Protected copyright. the occurrence of ptosis in some patients and of has occurred in conjunction with one or more partial hemi-hypertrophy in one patient. They also of the above anomalies, additional features have reported the occurrence of camptodactyly in a been noted including dwarfism, winging or elevation case of presumed Klinefelter's syndrome (chromo- of the scapula, high arched palate, and some some studies not reported) which might be com- degree of hemi-hypertrophy. (See Barinka, I964b; pared to the hypogonadal state noted in one of the Steindler, I920.) The pattern of inheritance is two sibs described by Hanley and McKusick most probably that of a dominant trait with variable (i966). penetrance. The association of camptodactyly with pectus It also seems well established that foot anomalies excavatum, slight thoracic scoliosis, dwarfism, may occur in association with camptodactyly, and bilateral ptosis was also noted in a single though it is much less clear at this time whether the female patient during a survey of hand anomalies latter association is part and parcel of the supposed being conducted by one of us (S.A.T.). The chest fourth syndrome described above. We have, deformity is often marked by undue prominence however, seen a single case in which these foot of the manubrio-sternal junction (also shown in anomalies were associated with radiological evidence Maurer's photograph of a case) which in our own of scoliosis (see Fig. 4). Alternatives are that the J Med Genet: first published as 10.1136/jmg.3.2.104 on 1 June 1966. Downloaded from

II12 Welch and Temtamy bony changes in the feet are occasionally associated overt palmar involvement, and occurrence at an with otherwise 'simple' camptodactyly, or that early age, provide truly distinguishing features they constitute yet another distinct syndrome. A when attention is limited to the changes in the further possibility is that consanguinity may account hands. for some of the cases with associated foot defor- It is also suggested that camptodactyly and mities, as suggested by the findings in one family Dupuytren's contracture may each be simply that all the proven cases showing such features facets of more generalized connective tissue occurred in the offspring of consanguineous disorders which show some phenotypic overlap, matings (Neel and Rusk, I963). and that camptodactyly may be one of the pleio- It remains possible that all these manifestations tropic manifestations of a number of genetically simply reflect the variability, commonly associated distinct disorders, as outlined, one of which has with dominant traits, of a single entity, campto- been recognized only relatively recently, and may dactyly. We feel, however, that the occurrence show pectus excavatum, scoliosis, ptosis, hypo- of similarly severely affected individuals in some gonadism, and other anomalies. families, and apparently 'simple' camptodactyly in other families, argues for the existence of This work was supported in part by National Insti- distinct entities. tutes of Health grant GMIoI8g. Finally, the possibility of environmental influence in the determination of camptodactyly may be mentioned. Walters and Zahra (1957) found a REFERENCES greatly increased incidence of 'Dupuytren's con- Adams, W. (I89I). On congenital contraction of the fingers and its association with 'hammer '. Lancet, 2, iii and i65. tracture' among a few villages in Eastern Nigeria, - (I892). On Contractions of the Fingers and on Hammer-toe, which seemed significantly correlated with an 2nd ed. J. and A. Churchill, London. Allan, W. (I939). Inheritance of short finger tendons. J. 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