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Type II Syndactyly

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Type II Syndactyly Type II Syndactyly HAROLD E. CROSS,' DAVID B. LERBERG,1 and VICTOR A. McKuSICK' Syndactyly, that is, webbing of adjacent digits with or without bony fusion, is a congenital malformation which occurs either as an isolated finding or as a feature of certain malformation syndromes. Several types of isolated syndactyly can be distin- guished anatomically. On the basis of a study of 63 pedigrees, Bell (1953) proposed a classification of syndactyly based primarily on the localization of the webbing: type Al, in which webbing occurs between the second and third toes with no involvement of the hands; type A2, with webbing between the third and fourth fingers, frequently with duplication of the fourth finger included in the web; type B1, with webbing between the fourth and fifth toes, often associated with a supernumerary toe in the web; and type C, in which webbing occurs between three or more digits in one or more extremities. In some pedigrees, however, multiple digital anomalies were present, and these were considered combinations of the above types, such as Al with A2, or A2 with BI. After reviewing the literature and studying additional families, Temtamy (1966) concluded that at least five types of syndactyly can be distinguished: type I, in which the characteristic malformation is syndactyly of the third and fourth fingers and the second and third toes; type II, with syndactyly between the third and fourth fingers, occasional duplication of the third or fourth finger in the web, syndactyly of the fourth and fifth toes, and duplication of the fifth toe; type III, in which syndactyly involves the fourth and fifth fingers only; type IV, with complete syndactyly of all fingers; and type V, in which syndactyly is associated with metacarpal and metatarsal synostosis. Each of these types is inherited as an autosomal dominant malformation with variable expressivity and incomplete penetrance. This report describes studies of a kindred in which numerous persons had syn- dactyly involving the third and fourth fingers and the fourth and fifth toes, classified as "type A2 with Bi" by Bell (1953) and "type II" by Temtamy (1966). This type of syndactyly was first reported by Smith and Norwell (1894) and later by Ebstein (1896), Jacobsohn (19C9), Vogel (1913), Manson (1916), Edwards (1916), Thomsen (1927), Bonnet (1928), Schade (1937), Pipkin and Pipkin (1946), and Alvord (1947). The 14 reported pedigrees include 162 affected males and 116 affected females. Linkage studies and systematic dermatoglyphic analyses have not been reported in this type of syndactyly. Our studies were undertaken (a) to determine what der- matoglyphic changes, if any, are characteristic of type II syndactyly; (b) to search for genetic linkage of type IL syndactyly; and (c) to investigate what anatomical, dermatoglyphic, or linkage information may be useful in the identification of heterozy- gotes with no clinical evidence of syndactyly. Received November 9,1967. 1 Division of Medical Genetics, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205. 368 TYPE II SYNDACTYLY 369 SUBJECTS AND METHODS No single individual served as the proband in this kindred since various affected members were brought to our attention during the course of other genetic studies being conducted in a rural community in Ohio. The pedigree (Fig. 1) was constructed through interviews with nearly half of the living members in the last four generations. Information on the first two generations was supplied by a retired schoolteacher (III-5) who is considered reliable. Individuals were examined in their homes for digital anomalies. Blood and saliva were collected from 35 persons: 28 members of the kindred in direct line of descent and seven unrelated spouses (see Fig. 1). Secretor status, blood groups, haptoglobin, and transferrin types were determined, using saliva and serum which had been packed in ice for overnight shipment to Baltimore. The ability to taste phenylthiocarbamide (PTC) was tested using paper strips impregnated with the compound. Finger, palm, and sole prints were obtained on 28 members of the kindred, using the method of Walker (1957). Dermatoglyphics were analyzed, using standard meth- ods for determining ridge counts, aid angles, and palm and sole patterns (Cummins and Midlo, 1961). Linkage analysis was performed, using the computer-based linkage program devel- oped by Renwick and Schulze (1961). RESULTS Clinical Features Twenty-seven members of the kindred are clinically affected; two others have no clinical evidence of this disorder, but both are offspring of affected individuals and both have affected children. Of the 29, six had died and 22 of the remaining 23 cases were examined, along with 16 unaffected relatives. The first individual known to manifest the anomaly (II-1) had syndactyly of both hands, but the feet were normal. Information on the immigrant couple (I-1 and I-2) is scant, but III-5 was told by his mother (II-1) that they were unaffected. Two persons (III-3 and IV-8) apparently represent "skipped generations." Avail- able evidence indicates that neither had any clinical manifestations of syndactyly, but both had affected offspring. These two matings were not consanguineous, and illegitimacy is unlikely because of the conservative religious practices of members of this community. Blood groups, available only for IV-8 and his offspring, provide no evidence of illegitimacy. III-3 is deceased, but both her feet and hands were normal. IV-8 has no clinical manifestations of syndactyly or polydactyly, although he has two affected daughers. The following analysis of clinical features is based on the 21 living members of the kindred who were examined and who manifested digital abnormalities. The anomaly is usually bilateral and is present more often in the upper extremities than in the lower. In 14 of the persons examined, both hands are involved, while in seven only one hand is involved. (In one person, VI-13, the only manifestation in the hands is bilateral fifth-finger clinodactyly, although the right foot is typically affected.) In the hands, a thick web between the third and fourth fingers usually extends the entire length of the digits, producing complete fusion. There may be a longitudinal - v w 0^ -ed w (/) <:v o *- - 0E ~ ~~ .o -o Cd - bO ._ "0 cd- -He = -0 S. 40 ~ r _ En d ° ° Y ~~~~~~~~~Cdcd ._ e U3 fEli- H- H N N TYPE II SYNDACTYLY 371 dorsal groove between the two fused fingers, extending across the broad nail, giving the appearance of a double nail (Fig. 2). The webbed fingers are often inclined toward the volar and ulnar aspects of the hand, with considerable limitation to full extension. This is most marked in the older individuals. Fusion of the distal phalanges may be suspected by palpation of the web and by some decrease in flexion and extension. Bony fusion is usually limited to a portion of the distal phalanges; its extent can be determined only by radiologic examination. Partial or complete duplication of the third or fourth digit may be present in the web but again may not be detectable except by radiologic examination. IV-12, however, has a short but fully formed and func- tional extra digit on the radial side of the webbed fingers. ' F'3: ..Ad T^9" _ anal,! ............................... ..:!:. !..: -- ... ......... ... FIG. 2.-Dorsal and volar aspects of hands of III-5. The third and fourth fingers can be extended only to the degree shown. The left palm shows a simian crease, an isolated finding in this pedigree. 372 CROSS ET AL. The dorsal and volar aspects of a typical affected hand (111-5) are shown in Figure 2. This individual has nearly normal function in both hands but is limited in extension to the degree shown. The radiographic features of the same hands are shown in Figure 3. In the left hand, the metacarpals appear normal, but the proximal, middle, and distal phalanges of the fourth digit are duplicated. The proximal and possibly the distal interphalangeal joints are obliterated. The distal phalanges of the third and fourth fingers are fused. In the right hand, the middle and distal phalanges of the fourth digit are widened, suggesting that duplication has occurred. The middle and distal phalanges of the third and fourth fingers are fused. The radiographic appearance of the hands of a newborn (V-31) is shown in Figure 4. In both hands, the third metacarpal bone appears widened, distal phalanges of the FIG. 3.-Radiographic appearance of hands in III-5 (see text for description) FIG. 4.-Radiographic appearance of hands in a newborn (V-31) (see text for description) TYPE II SYNDACTYLY 373 third and fourth fingers are fused, and extra phalanges are present. Phalangeal dupli- cation is also suggested by enlargement of several of the proximal phalanges in both hands. The feet are involved in 12 of the 21 persons: both feet in seven individuals and only one foot in five others. The anomaly is never present in the feet unless the hands are also affected. If only one hand is affected, either the ipsilateral foot or both feet are affected, but the contralateral foot alone is never involved. FIG. 5.-Feet in III-5 The disorder is manifest in the feet by complete syndactyly of the fourth and fifth toes and a longitudinal groove on the dorsal aspect of the toes extending distally across the fused nails. The fifth toe may be partially or completely duplicated on the fibular side, but usually this is demonstrable only by radiologic examination. It may be suspected, however, by the abnormally broad appearance of the fused fourth and fifth toes. IV-11 had a supernumerary toe removed from the fibular side of the right foot as a child; the only manifestation at present is a short fifth toe, apparently due to short- ening of the fifth metatarsal.
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