Isolated aglossia congenita: A rare case of oromandibular limb hypogenesis syndrome type I B

Abstract

Aglossia congenita (AC), congenital total absence of the tongue, is a very rare midline developmental anomaly, hypothesized to be associated with vascular disruption between the fourth and eighth week of gestation. It was classified by Hall (1971) as part of oromandibular limb hypogenesis syndrome (OLHS) type I B. Most of the cases reported with OLHS are actually hypoglossia with limb abnormalities whereas isolated aglossia is an extremely rare entity. A case of isolated AC is presented in a 28-year-old Indian male. He had long narrow face, tapering chin, low set ears, and microstomia. Intraorally, he had narrow palatal vault, constricted oropharyngeal isthmus, oligodontia, and maxillo-mandibular hypoplasia. Interestingly, the patient showed a median palatal groove, which has not been reported before. He also had an unusual acquired adaptive mechanism to compensate for aglossia. This report presents the manifestations of this rare syndrome, its complications, differential diagnosis, and rehabilitation strategies.

A Child With Congenital Aglossia: A Narrative Review and Descriptive Case Study

“…The related terms, microglossia and hypoglossia, refer to an abnormally small tongue and an incompletely developed tongue, respectively (Salles et al, 2008). A review of the literature reveals reports of aglossia and hypoglossia associated with limb deformities (Alexander, Friedman, Eichen, & Buchbinder, 1992;Christian, Goldberg, Sturman, & Ingersoll, 1984;Coşkunfirat, Velidedeoğiu, Demir, & Kurtay, 1999;Grippaudo & Kennedy, 1998;Gupta, 2012;Hall, 1971;Howard & Hurt, have been conducted using electropalatography, videoflourography, and real-time magnetic resonance imaging (MRI) with the person with CA (PwCA) in her 40s (McMicken, Von Berg, Wang, Kunihiro, Vento-Wilson, & Rogers, 2015;McMicken, Kunihiro, Wang, Von Berg, & Rogers, 2014;McMicken et al, 2017;. In addition, taste testing was conducted with the female as an adult (Mahood, Wang, McMicken, & Rock, 2017;McMicken, Wang, & Vento-Wilson, 2014).…”

A case of isolated aglossia

“…This is in addition to orthodontic treatment and speech and hearing therapy to help the patient adapt to all these corrections [5]. In another case reported by Gupta, 2012, arch expansion was achieved by autologous rib graft [2]. In conclusion, isolated aglossia is a rare anomaly that causes many functional problems, however through development and adaptation, the rest of the surrounding tissues can make up for the missing organs and restore function.…”

“…Aglossia is a rare anomaly where the lateral lingual swellings and the tuberculum impar fail to develop during embryogenesis [1]. Aglossia is rarely isolated and is usually accompanied by other anomalies such as adactyly, mental retardation, short stature and craniofacial deformities as micrognathia, cleft palate or lip, facial asymmetry and partial anodontia [1,2]. Aglossia whether isolated or in association with other symptoms may be due to Folic acid deficiency [3], maternal febrile illness, infection, hypothyroidism or vascular disruption during tongue development [4].…”

“…The tongue is responsible for speech, swallowing, sucking, taste and jaw development. In its absence, the floor of the mouth has a remarkable ability to hypertrophy and adapt to the functions of the missing organ in swallowing and mastication [2]. The uvula enlarges to close the oropharynx to force the air through the nasal passage for the articulation * Correspondence: noha.adel@dentistry.cu.edu.eg of the nasal passage [2].…”

“…In its absence, the floor of the mouth has a remarkable ability to hypertrophy and adapt to the functions of the missing organ in swallowing and mastication [2]. The uvula enlarges to close the oropharynx to force the air through the nasal passage for the articulation * Correspondence: noha.adel@dentistry.cu.edu.eg of the nasal passage [2]. However, a multidisciplinary approach to treatment remains a necessity to correct the inevitable dentofacial deformities such as malocclusion, clefting or maldeveloped mandible.…”