title: 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.
authors.affiliation: Department of Plastic Surgery, Policlinico Umberto I, University of Rome La Sapienza, Italy.
authors.forename: F R
authors.initials: FR
authors.lastname: Grippaudo
authors.forename: D C
authors.initials: DC
authors.lastname: Kennedy
mesh_terms: D000015:Abnormalities, Multiple / Q000145:classification*; D002648:Child; D006801:Humans; D017880:Limb Deformities, Congenital / Q000145:classification; D008297:Male; D008334:Mandible / Q000002:abnormalities*; D009056:Mouth Abnormalities / Q000145:classification*; D014059:Tongue / Q000002:abnormalities*