{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T11:52:53Z","timestamp":1792151573423,"version":"4.4.0"},"reference-count":24,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,6,2]],"date-time":"2005-06-02T00:00:00Z","timestamp":1117670400000},"content-version":"vor","delay-in-days":9284,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1980,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe a sporadic case and four sibs from a consanguineous Nicaraguan family affected with the multiple pterygium syndrome. Clinical manifestations included normal intelligence; short stature; pterygia of neck, axillary, antecubital, popliteal, digital, and intercrural areas; multiple joint contractures with a crouched stance; a flat, sad, motionless facial appearance; and cleft palate. Males had small penis and scrotum and cryptorchidism; females had apparent aplasia of labia majora and small clitoris. Skeletal anomalies included fusion of cervical vertebrae, scoliosis, flexion contractures of fingers and \u201crocker\u2010bottom\u201d feet with vertical talus. This review documents genetic heterogeneity: Autosomal recessive inheritance in many cases, autosomal dominant determination in others, and sporadic occurrence.<\/jats:p>","DOI":"10.1002\/ajmg.1320070203","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T17:38:10Z","timestamp":1118511490000},"page":"91-102","source":"Crossref","is-referenced-by-count":61,"title":["Multiple pterygium syndrome"],"prefix":"10.1002","volume":"7","author":[{"given":"Harold","family":"Chen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chung\u2010Ho","family":"Chang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raghunath P.","family":"Misra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henry A.","family":"Peters","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noel Sandino","family":"Grijalva","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R. Brian","family":"Lowry","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,2]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"232","volume-title":"The Endocrine System","author":"Aarskog D","year":"1971"},{"key":"e_1_2_1_3_1","first-page":"489","article-title":"Syndrome of phocomelic diabetic embryopathy (caudal dysplasia)","volume":"123","author":"Assemany SR","year":"1972","journal-title":"Am J Dis Child"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.9.2.222"},{"key":"e_1_2_1_5_1","first-page":"237","article-title":"Sindrome de pterygium familiar con probable transmission dominante ligada al chromosoma X","volume":"25","author":"Carnevale A","year":"1973","journal-title":"Rev Invest Clin"},{"key":"e_1_2_1_6_1","unstructured":"ChenH GershanikJ WardJG: Personal observation 1980."},{"key":"e_1_2_1_7_1","first-page":"609","article-title":"Multiple pterygium syndrome","volume":"132","author":"Escobar V","year":"1978","journal-title":"Am J Dis Child"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.15.1.35"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1925.04120280083007"},{"key":"e_1_2_1_10_1","first-page":"19","volume-title":"Fourth International Conference on Birth Defects","author":"Frias JL","year":"1973"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.13.3.249"},{"key":"e_1_2_1_12_1","volume-title":"Syndromes of the Head and Neck","author":"Gorlin RJ","year":"1976"},{"key":"e_1_2_1_13_1","first-page":"317","article-title":"Observations nouvelles sur le status Bonnevie\u2010Ullrich (Case 1)","volume":"169","author":"Guinand\u2010Doniol J","year":"1947","journal-title":"Ann Paediatr (Basel)"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02629222"},{"key":"e_1_2_1_15_1","first-page":"141","article-title":"Arthrogryposis multiplex congenita (Cases 3 and 4)","volume":"123","author":"Krieger I","year":"1972","journal-title":"Am J Dis Child"},{"key":"e_1_2_1_16_1","first-page":"248","article-title":"Beitrag zum Bilde der pterygomyodysplasia arthrogrypotica generalis (pterygoarthromyodysplasia congenita)","volume":"108","author":"Lang VK","year":"1960","journal-title":"Monatsschr Kinderheilkd"},{"key":"e_1_2_1_17_1","volume-title":"Mendelian Inheritance in Man, Catalogs of Autosomal Dominant, Autosomal Recessive, and X\u2010Linked Phenotypes","author":"McKusick VA","year":"1978"},{"key":"e_1_2_1_18_1","first-page":"675","article-title":"Uber die chirurgische Behandlung der angeborenen Flughaut","volume":"185","author":"Matolcsy T","year":"1936","journal-title":"Langenbecks Arch Chir"},{"key":"e_1_2_1_19_1","first-page":"233","volume-title":"Malformation Syndrome","author":"Norum RA","year":"1969"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0046-8177(77)80029-4"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1973.tb01132.x"},{"key":"e_1_2_1_22_1","first-page":"119","article-title":"Le syndrome du pterygium. 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