title: Maxillofacial and dental manifestations in a patient with mandibulo-acral dysplasia.
abstract: Mandibulo-acral dysplasia (MAD) is a rare condition characterized by mandibular hypoplasia, acroosteolysis, delayed cranial suture closure, hypoplastic clavicles, stiff joints, dental crowding, atrophy of the skin of the hands and feet, progeroid facial appearance, alopecia and short stature. This report presents a patient with MAD, suffering from difficulty in mastication and speech, together with limited lip closure and aesthetic problems related to the clinical outcomes of the syndrome. The aim of reporting this case is to detail the first widely determined dental and maxillofacial abnormalities of a rare syndrome, mandibulo-acral dysplasia, and to contribute to the data regarding the etiology of consanguinity.
authors.affiliation: Istanbul University, Dental School, Turkey.
authors.forename: Hakki
authors.initials: H
authors.lastname: Tanyeri
authors.forename: Esma
authors.initials: E
authors.lastname: Kurklu
authors.forename: Gulsum
authors.initials: G
authors.lastname: Ak
authors.forename: Sukru
authors.initials: S
authors.lastname: Ozturk
authors.forename: Meltem
authors.initials: M
authors.lastname: Koray
authors.forename: Sukru
authors.initials: S
authors.lastname: Palanduz
mesh_terms: D000328:Adult; D001848:Bone Diseases, Developmental / Q000473:pathology*; D003241:Consanguinity; D019465:Craniofacial Abnormalities / Q000473:pathology*; D005385:Fingers / Q000473:pathology; D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D008310:Malocclusion / Q000473:pathology; D008334:Mandible / Q000002:abnormalities; D010014:Osteolysis / Q000473:pathology; D012868:Skin Abnormalities / Q000473:pathology; D013704:Temporomandibular Joint / Q000002:abnormalities; D014071:Tooth Abnormalities / Q000473:pathology*