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

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.