Abstract
The Antley-Bixler syndrome comprises malformations of cartilage and bone. The essential signs are a dysmorphic facies with flattening of the central region of the face, humeroradial synostosis with flexed attitude of the upper limbs and swelling of the distal interphalangeal and metacarpophalangeal articulations. Congenital atresia of the nasal choanae, which is often present, makes the prognosis of this syndrome extremely severe. Two patients affected by the syndrome are described. Atresia of the nasal choanae was absent in both. The first patient had genital ambiguity, a condition which has been described in the literature in only two other cases; the second one had all the fundamental characteristics of the syndrome except for humeroradial synostosis, although hypoplasia of the lateral condyle of the humerus and dislocation of the radius are present in association with synostosis between the 2nd metatarsal and the intermediate cuneiform.
Similar content being viewed by others
References
Antley RM, Bixler D (1975) Trapezoidocephaly, midfacial hypoplasia and cartilage abnormalities with multiple synostoses and skeletal fractures. Birth Defects XI(2):397
De Lozier CD, Antley RM, Williams R, Green N, Heller RM, Bixler D, Engel E (1980) The syndrome of multisynostotic osteodysgenesis with long-bone fractures. Am J Med Genet 7:391
De Lozier-Blanchet CD (1989) Antley-Bixler syndrome from a prognostic perspective. Am J Med Genet 32:262
Escobar LF, Bixler D, Sadove M, Bull MJ (1988) Antley-Bixler syndrome from a prognostic perspective: report of a case and review of the literature. Am J Med Genet 29:829
Herva R, Seppänen U (1985) Multisynostotic osteodysgenesis. Pediatr Radiol 15:63
Khajavi A, Lachman R, Rimoin D, Schimke RN, Dorst J, Handmaker S, Ebbin A, Perreault G (1976) Heterogeneity in the campomelic syndromes. Radiology 120:641
Muller LM, de Jong G, Mouton SCE, Greeff MJ, Kirby P, Hewlett R, Jordaan HF (1987) A case of the Neu-Laxova syndrome: prenatal ultrasonographic monitoring in the third trimester and the histopathological findings. Am J Med Genet 26:421
Robert E, Bethenod M, Bourgeois J (1984) Le syndrome d'Antley-Bixler. Revue de la littérature. A propos d'une observation personnelle. J Genet Hum 32:291
Robinson LK, Powers NG, Dunklee P, Sherman S, Jones KL (1982) The Antley-Bixler syndrome. J Pediatr 101:201
Schinzel A, Savoldelli G, Briner J, Sigg P, Massini C (1983) Antley-Bixler syndrome in sisters: a term newborn and a prenatally diagnosed fetus. Am J Med Genet 14:139
Silverthorn KG, Houston CS, Newman DE, Wood BJ (1989) Radiographic findings in liveborn triploidy. Pediatr Radiol 19:237
Ostrovskaya TI, Lazjuk GI (1988) Cerebral abnormalities in the Neu-Laxova syndrome. Am J Med Genet 30:747
Weaton SW (1984) Two specimens of congenital cranial deformity in infants associated with fusion of the fingers and toes. Trans Pathol Soc Lond 45:238
Yasui Y, Yamaguchi A, Yoshimoto I, Tsuyoshi U, Kihachiro S, Wada Y (1983) The first case of the Antley-Bixler syndrome wih a consanguinity in Japan. Jpn J Hum Genet 28:215
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Bianchi, E., Cordini, S., Fiori, P. et al. Antley-Bixler syndrome: description of two patients. Skeletal Radiol. 20, 339–343 (1991). https://doi.org/10.1007/BF01267660
Issue Date:
DOI: https://doi.org/10.1007/BF01267660