{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T10:24:34Z","timestamp":1760783074917,"version":"build-2065373602"},"reference-count":7,"publisher":"BMJ","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1976,8]]},"abstract":"<jats:p>A 5-year-old boy and his father with Pfeiffer syndrome are described. They had acrocephaly, hypertelorism, antimongoloid slant of the palpebral fissures, protrusion of the eyes, large and broad nose, small mandible, irregularly placed teeth, additional upper canine, high-arched palate, partial syndactyly of fingers and toes, brachydactyly of toes, valgus deformity of hypertrophied triangular great toes, broad phalanges of the great toes and broad first metatarsals, accessory epiphyses lateral to the interphalangeal joint of the great toes, and normal intelligence. To our knowledge, this is the first family in which the syndrome is almost totally confined to the head and feet--it spares the upper limbs except for partial skin syndactyly between the fingers--and the third family showing inheritance through three successive generations suggesting an autosomal dominant mode of inheritance. The published papers are reviewed and the clinical and x-ray signs are tabulated.<\/jats:p>","DOI":"10.1136\/jmg.13.4.277","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"277-280","source":"Crossref","is-referenced-by-count":15,"title":["Pfeiffer syndrome: report of a family and review of the literature."],"prefix":"10.1136","volume":"13","author":[{"given":"Y","family":"Naveh","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Friedman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1976,8,1]]},"reference":[{"key":"ref_1","first-page":"198","article-title":"Pfeiffer syndrome","volume":"5","author":"Asnes, R.S.; Morehead, C.D.","year":"1969","unstructured":"Asnes, R. S. and Morehead, C. D. (1969). Pfeiffer syndrome. Birth Defects: Original Article Series, 5, 198-203.","journal-title":"Birth Defects: Original Article Series"},{"key":"ref_2","first-page":"257","article-title":"Pfeiffer syndrome. An unusual type of acrocephalosyndactyly with broad thumbs and great toes","volume-title":"American j3ournal of Diseases of Children","volume":"121","author":"Martsolf, J.T.; Cracco, J.B.; Carpenter, G.G.; O'Hara, A.E.","year":"1971","unstructured":"Martsolf, J. T., Cracco, J. B., Carpenter, G. G., and O'Hara, A. E. (1971). Pfeiffer syndrome. An unusual type of acrocephalosyndactyly with broad thumbs and great toes. American j3ournal of Diseases of Children, 121, 257-262."},{"key":"ref_3","first-page":"301","article-title":"Dominant erbliche","volume":"90","author":"Pfeiffer, R.A.","year":"1964","unstructured":"Pfeiffer, R. A. (1964). Dominant erbliche akrocephalosyndaktylie. Zeitschrift fur Kinderheilkunde, 90, 301-320."},{"key":"ref_4","first-page":"18","article-title":"Associated deformities of the head and hands","volume":"5","author":"Pfeiffer, R.A.","year":"1969","unstructured":"Pfeiffer, R. A. (1969). Associated deformities of the head and hands. Birth Defects: Original Article Series, 5, 18-34.","journal-title":"Birth Defects: Original Article Series"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"609","DOI":"10.2214\/ajr.116.3.609","article-title":"Familial acrocephalosyndactyly (Pfeiffer syndrome)","volume":"116","author":"Saldino, R.M.; Steinbach, H.L.; Epstein, C.J.","year":"1972","unstructured":"Saldino, R. M., Steinbach, H. L., and Epstein, C. J. (1972). Familial acrocephalosyndactyly (Pfeiffer syndrome). AmericanJournal of Roentgenology, 116, 609-622.","journal-title":"AmericanJournal of Roentgenology"},{"key":"ref_6","first-page":"125","article-title":"Synopsis of hand malformations with particular emphasis on genetic factors","volume":"5","author":"Temtamy, S.; McKusick, V.A.","year":"1969","unstructured":"Temtamy, S. and McKusick, V. A. (1969). Synopsis of hand malformations with particular emphasis on genetic factors. Birth Defects: Original Article Series, 5, 125-184.","journal-title":"Birth Defects: Original Article Series"},{"key":"ref_7","first-page":"234245","article-title":"Dominant vererbte Akrozephalosyndaktylie (ACS). Fortschritte auf dem Gebiete der Rontgenstrahlen und der","volume":"110","author":"Zippel, H.; Schuler, K.H.","year":"1969","unstructured":"Zippel, H. and Schuler, K. H. (1969). Dominant vererbte Akrozephalosyndaktylie (ACS). Fortschritte auf dem Gebiete der Rontgenstrahlen und der Nuklearmedizin (Stuttgart), 110, 234245.","journal-title":"Nuklearmedizin (Stuttgart)"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.13.4.277","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T21:14:39Z","timestamp":1760735679000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.13.4.277"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1976,8]]},"references-count":7,"journal-issue":{"issue":"4","published-online":{"date-parts":[[1976,8,1]]},"published-print":{"date-parts":[[1976,8]]}},"alternative-id":["10.1136\/jmg.13.4.277"],"URL":"https:\/\/doi.org\/10.1136\/jmg.13.4.277","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1976,8]]}}}