{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:07:57Z","timestamp":1761718077985,"version":"build-2065373602"},"reference-count":12,"publisher":"BMJ","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1995,6]]},"abstract":"<jats:p>Syndactyly type II (synpolydactyly (SPD)) is an autosomal dominant condition with typical abnormalities of the distal parts of both upper and lower limbs. We report here a previously undescribed phenotypic feature of people with severe hand and foot deformities who were born to two affected parents. This is the first example of SPD subjects manifesting a very distinctive phenotype, suggesting that they must be homozygous for this condition. The typical characteristic clinical features in these subjects are as follows: (1) short hands with wrinkled fatty skin and short feet; (2) complete soft tissue syndactyly involving all four limbs; (3) polydactyly of the preaxial, mesoaxial, and postaxial digits of the hands; (4) loss of the normal tubular shape of the carpal, metacarpal, and phalangeal bones, so as to give polygonal structures; (5) loss of the typical structure of the cuboid and all three cuneiform bones while the talus calcaneus and navicular bones remain intact; (6) large bony islands instead of metatarsals, most probably because of cuboid-metatarsal and cuneiform-metatarsal fusions; and (7) severe middle phalangeal hypoplasia\/aplasia as well as fusion of some phalangeal structures that are associated with the loss of normal phalangeal pattern. We report seven subjects with this phenotype from three different branches of a very large SPD pedigree exhibiting the same phenotype with minimal variation. In mice, the Polysyndactyly (Ps) mutation shows a pattern of synpolydactyly very similar to that of human SPD, suggesting that they may well be homologous mutations. A molecular genetic study is currently under way to determine the chromosomal location of the SPD locus in humans and to identify the corresponding homologous region in mice.<\/jats:p>","DOI":"10.1136\/jmg.32.6.435","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"435-441","source":"Crossref","is-referenced-by-count":26,"title":["A large Turkish kindred with syndactyly type II (synpolydactyly). 2. Homozygous phenotype?"],"prefix":"10.1136","volume":"32","author":[{"given":"A N","family":"Akarsu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"O","family":"Akhan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B S","family":"Sayli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"U","family":"Sayli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"Baskaya","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Sarfarazi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1995,6,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"609","DOI":"10.1111\/j.0954-6820.1926.tb12297.x","article-title":"Einige Eigentuemlichkeiten der erblichen Polyund Syndactylie bei Menschen","volume":"65","author":"0, Thomsen","year":"1927","unstructured":"Thomsen 0. Einige Eigentuemlichkeiten der erblichen Polyund Syndactylie bei Menschen. Acta Med Scand 1927;65: 609-44.","journal-title":"Acta Med Scand"},{"key":"ref_2","first-page":"368","article-title":"Type II syndactyly","volume":"20","author":"Cross, H.E.; Lerberg, D.B.; McKusick, V.A.","year":"1968","unstructured":"Cross HE, Lerberg DB, McKusick VA. Type II syndactyly. AmJtHum Genet 1968;20:368-80.","journal-title":"AmJtHum Genet"},{"key":"ref_3","first-page":"421","article-title":"clinical and pedigree data","volume":"32","author":"investigation, Field","year":"1995","unstructured":"Field investigation, clinical and pedigree data. J Med Genet 1995;32:421-34.","journal-title":"J Med Genet"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"568","DOI":"10.1136\/jmg.24.9.568","article-title":"Homozygosity in piebald trait","volume":"24","author":"Hulten, M.A.; Honeyman, M.M.; Mayne, A.J.; Tarlow, M.S.","year":"1987","unstructured":"Hulten MA, Honeyman MM, Mayne AJ, Tarlow MS. Homozygosity in piebald trait. J Med Genet 1987;24: 568-71.","journal-title":"J Med Genet"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1002\/ajmg.1320160403","article-title":"Dominance and homozygosity in man","volume":"16","author":"Pauli, R.M.","year":"1983","unstructured":"Pauli RM. Dominance and homozygosity in man. Am J Med Genet 1983;16:455-8.","journal-title":"Am J Med Genet"},{"key":"ref_6","article-title":"Mendelian inheritance in man","author":"McKusick, V.A.","year":"1992","unstructured":"McKusick VA. Mendelian inheritance in man. 10th ed. Baltimore: The Johns Hopkins University Press, 1992.","edition":"10th ed"},{"key":"ref_7","article-title":"The genetics of hand malformations. In: Birth defects: original article series. Volume XIV (3)","author":"Temtamy, S.A.; McKusick, V.A.","year":"1978","unstructured":"Temtamy SA, McKusick VA. The genetics of hand malformations. In: Birth defects: original article series. Volume XIV (3). New York: Alan R Liss, 1978."},{"key":"ref_8","article-title":"Genetic variants and strains of the laboratory mouse","author":"Lyon, M.F.; Searle, A.G.","year":"1989","unstructured":"Lyon MF, Searle AG. Genetic variants and strains of the laboratory mouse. 2nd ed. Oxford: Oxford University Press, 1989.","edition":"2nd ed"},{"key":"ref_9","first-page":"285","article-title":"Polysyndactyly, a new mutant gene in the mouse. Jf Embryol Exp Morphol 1969; 21","author":"Johnson, DR","unstructured":"Johnson DR. Polysyndactyly, a new mutant gene in the mouse. Jf Embryol Exp Morphol 1969;21:285-94."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"480","DOI":"10.1136\/jmg.25.7.480","article-title":"Malformation syndromes: a review of mouse\/ human homology","volume":"25","author":"Winter, R.M.","year":"1988","unstructured":"Winter RM. Malformation syndromes: a review of mouse\/ human homology. J Med Genet 1988;25:480-7.","journal-title":"J Med Genet"},{"key":"ref_11","article-title":"The developing human","author":"Moore, K.L.","year":"1988","unstructured":"Moore KL. The developing human. 4th ed. Philadelphia: Saunders International Edition, 1988.","edition":"4th ed"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1159\/000472392","article-title":"Syndactylies and polydactylies: embryological overview and suggested classifications","volume":"1","author":"C, Winter R.M.Tickle","year":"1993","unstructured":"Winter RM. Tickle C. Syndactylies and polydactylies: embryological overview and suggested classifications. 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