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Elsevier, British Journal of Plastic Surgery, 6(51), p. 480-483, 1998

DOI: 10.1054/bjps.1997.0207

Elsevier, British Journal of Plastic Surgery, 6(51), p. 480-483

DOI: 10.1016/s0007-1226(97)90207-1

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Oromandibular-limb hypogenesis syndromes: a case of aglossia with an intraoral band

Journal article published in 1998 by Francesca Romana Grippaudo ORCID, Daniel Christopher Kennedy
This paper was not found in any repository, but could be made available legally by the author.
This paper was not found in any repository, but could be made available legally by the author.

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Abstract

Oromandibular and limb syndromes feature primarily in sporadic case reports because of their low incidence. They include Moebius syndrome, aglossia-adactylia syndrome, Hanhart syndrome, glossopalatine ankylosis syndrome, limb deficiency-splenogonadal fusion syndrome and Charlie M. syndrome. There is confusion in the classification of these patients because of the associated anomalies and the frequency of overlapping features. This paper presents a patient with oromandibular malformations associated with major defects in the upper and lower limbs. Aglossia in the presence of an intraoral band is a peculiar association demanding classification. This case confirms that aglossia-adactylia syndrome and the glossopalatine ankylosis syndrome are variants along a spectrum.