{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T01:45:11Z","timestamp":1791164711590,"version":"4.1.0"},"reference-count":77,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":8069,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1983,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report 17 cases of the campomelic syndrome (CS) and a follow\u2010up of one of the original patients of Maroteaux et al who is now 17 years old. Our review is based on 97 patients, including our own.<\/jats:p><jats:p>An infant with the CS presents at birth with spectacularly short and bowed femora and tibiae. The initial chest radiograph confirms the diagnosis by demonstrating extremely small bladeless scapulae and hypoplastic pedicles of many thoracic vertebrae. Ossification of the sternal segments, pubis, talus, and knee epiphyses is also retarded. Usually the hips are dislocated and talipes equinovarus deformities are present. There is a small chondrocranium and a disproportionately large neurocranium.<\/jats:p><jats:p>The bell\u2010shaped chest, narrow superiorly, does not explain the degree of respiratory distress that soon ensues. Narrow airways from defective tracheo\u2010bronchial cartilage can often be demonstrated on the radiograph, but micrognathia, retroglossia, cleft palate, hypoplastic lungs, and even CNS\u2010based hypotonia contribute to the respiratory problem.<\/jats:p><jats:p>Internal anomalies include frequent absence of olfactory bulbs and tracts and dilatation of cerebral ventricles, heart defects (PDA, VSD, stenosis of aortic isthmus), hydroureter and hydronephrosis, renal hypoplasia, and rarely renal cysts.<\/jats:p><jats:p>We conclude on the basis of mostly sporadic (\u201cchance isolated\u201d) occurrence, several instances o parental consanguinity, and familial occurrence that the CS is probably owing to the homozygous state of an autosomal recessive gene. Affected males may have normal genitalia with desceding testes or female genitalia with streak\u2010like gonadal rudiments, or any stage of male pseudohermaphroditism between these two extremes. Whether the H\u2010Y antigen deficiency observed in \u201csex reversed\u201d CS males is a primary or secondary defect remains unsettled.<\/jats:p><jats:p>This not uncommon syndrome is usually fatal within days, weeks, or months. However, several young survivors are known with initially normal neurologic status and psychomotor development. Our patient 17 is 17 years old, has an estimaged IQ of 45, and a hearing loss, which may reflect numerous middle\u2010ear infections and malformations of the middle ear.<\/jats:p>","DOI":"10.1002\/ajmg.1320150103","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T15:40:53Z","timestamp":1118504453000},"page":"3-28","source":"Crossref","is-referenced-by-count":237,"title":["The campomelic syndrome: Review, report of 17 cases, and follow\u2010up on the currently 17\u2010year\u2010old boy first reported by Maroteaux et al in 1971"],"prefix":"10.1002","volume":"15","author":[{"given":"C. Stuart","family":"Houston","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J\u00fcrgen W.","family":"Spranger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roderick I.","family":"Macpherson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin H.","family":"Reed","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enid 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