European journal of paediatric dentistry · 2014
Prolidase deficiency: dento-facial aspects in a paediatric patient.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Lacarbonara M, Cazzolla A P, Lacarbonara V A, Di Venere D, Capogreco M, Marzo G
Аннотация
BACKGROUND: Prolidase Deficiency (PD) is a rare hereditary disease consisting in developmental delay, mental retardation, facial dysmorphism, splenomegaly, recurrent pulmonary infections and skin lesions.
CASE REPORT: The present study reports a case of PD treated in the Paediatric Section of the Department of Dentistry and Surgery at the University of Bari. A special diagnostic and clinical approach to the patient was useful to improve his quality of life and identify some new aspects of this systemic disease. In particular, clinical features never described before are reported: low hair line, decreased osteotendinous reflexes, long upper lip, microrhinia, dentoskeletal Class III, dental age (Proffit) older than chronological age, fusion of 2nd and 3rd cervical vertebrae, incomplete atlanto-occipital fusion.
CASE REPORT: The present study reports a case of PD treated in the Paediatric Section of the Department of Dentistry and Surgery at the University of Bari. A special diagnostic and clinical approach to the patient was useful to improve his quality of life and identify some new aspects of this systemic disease. In particular, clinical features never described before are reported: low hair line, decreased osteotendinous reflexes, long upper lip, microrhinia, dentoskeletal Class III, dental age (Proffit) older than chronological age, fusion of 2nd and 3rd cervical vertebrae, incomplete atlanto-occipital fusion.