[Aglossia adactylia syndrome with anterior maxillo mandibular fusion: a case report]

ABSTRACT

The hypoglossia-hypodactylia syndrome [Hanhart syndrome] is a congenital birth defect. The major features of this syndrome are a reduction in tongue size, micrognathia, limb anomalies and many occasional other anomalies. The neurosensorial development is preserved We report a particular case with anterior maxillo-mandibular fusion. The patient, a male neonate, was the third child of a 42 year old woman. There was parental consanguinity but no similar cases in the family. The physical examination at birth revealed an eutrophic newborn with facial dysmorphia, impossibility of opening the mouth, aplasia of the fingers on the level of the metacarpo-phalangeal articulations and apodia. Computed tomography scan noted anterior maxillo mandibular fusion, glossopalatine ankylosis and cleft palate. The chromosomic chart, cardiac echography and transfontanellar ultrasound scan were normal. The Hanhart syndrome is a rare malformatif syndrome, grave because of the limbs reductionnal anomalies and feeding difficulties. The etiopathogeny is unknown; drug-taking during the pregnancy, genetic and vascular theories has been implicated