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Genet."],"published-print":{"date-parts":[[1988,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Two sisters born to consanguineous parents had a syndrome of short stature, acrocephaly, hypertelorism, proptosis, ptosis, down\u2010slanting palpebral fissures, high nose bridge and anteverted nares, short philtrum, cleft palate, micrognathia, abnormal external ears, preauricular pits, sensorineural and conductive deafness, proximally placed first toes and digitalized thumbs, bulbous digits, metatarsus adductus, and pectus excavatum.<\/jats:p><jats:p>Radiological abnormalities included craniosynostosis, increased mandibular angle and antegonial notching of mandible; hypoplastic first metacarpals and metatarsals; hypoplastic distal phalanges; partial duplication of the distal phalanx of the thumb; malformed malleus and incus; tall lumbar vertebrae, increased interpedicular distance, and posterior scalloping; flared iliac wings, narrow supraacetabular regions, acetabular \u201cdysplasia,\u201d and coxa valga.<\/jats:p><jats:p>Autosomal recessive inheritence is suggested.<\/jats:p>","DOI":"10.1002\/ajmg.1320290112","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T03:05:11Z","timestamp":1118545511000},"page":"95-106","source":"Crossref","is-referenced-by-count":14,"title":["A new acro\u2010cranio\u2010facial dysostosis syndrome in sisters"],"prefix":"10.1002","volume":"29","author":[{"given":"Paige","family":"Kaplan","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Henri","family":"Plauchu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naomi","family":"Fitch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sigrid","family":"J\u00e9quier","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John M.","family":"Optiz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James F.","family":"Reynolds","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(81)80835-9"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320200207"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1967.02090170078006"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1977.tb01316.x"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1976.tb00039.x"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320150416"},{"key":"e_1_2_1_8_1","first-page":"24","article-title":"Oto\u2010palato\u2010digital syndrome: Comparison of clinical and radiographic manifestations in males and females","volume":"24","author":"Gall JC","year":"1972","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00973530"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.2214\/ajr.100.1.63"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320250626"},{"key":"e_1_2_1_12_1","first-page":"322","article-title":"Le syndrome oto\u2010palato\u2010digital. 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