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Camptodactyly) J 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 Contractures of the Fingers (Camptodactyly) J. PHILIP WELCH and SAMIA A. TEMTAMY ,From the Division of Medical Genetics, 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 contracture, 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 surgery, 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 I 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 1 E E E EJ) E E E 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 knuckle pads 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 pectus excavatum, scoliosis, 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 toes (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 knee joint and foot anomalies, some similar to that reported by Neel and Rusk (I963) Tomesku (I928) I - Parents normal but uncle had polydactyly; some operative findings given Moore and Messina (1936) 2 4 Additional 2 children of unaffected member of family had proximal i.p.
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