RESUMO
Coffin-Lowry syndrome is an X-linked disorder characterized by mental retardation, characteristic facial features, skeletal abnormalities, and tapering fingers. Herein we report a novel missense mutation in exon 7 at codon 180 in the RPS6KA3 gene in a boy with Coffin-Lowry syndrome.
Assuntos
Síndrome de Coffin-Lowry/genética , Mutação de Sentido Incorreto/genética , Proteínas Quinases S6 Ribossômicas 90-kDa/genética , Criança , Códon/genética , Síndrome de Coffin-Lowry/diagnóstico por imagem , Hibridização Genômica Comparativa , Éxons/genética , Humanos , Vértebras Lombares/anormalidades , Vértebras Lombares/diagnóstico por imagem , Masculino , Radiografia , Sacro/anormalidades , Sacro/diagnóstico por imagem , Disrafismo Espinal/diagnóstico por imagem , Disrafismo Espinal/genéticaRESUMO
Coffin-Lowry Syndrome is characterized by mental retardation, skeletal abnormalities, delayed bone development, short stature, tapered fingers, large ears, orbital hypertelorism, anteverted nares, and a prominent frontal region. This inherited disorder is x-linked and is genetically mapped to the Xp22.2 chromosomal region. This report presents the dental findings of three male members of the same family: an older brother and younger identical twins; all three were first examined at age 10. The father's family came from North Africa and the mother's from Eastern Europe. In addition to the reported typical characteristics of Coffin-Lowry Syndrome, a number of specific dental findings were found in all of the brothers, namely, maxillary protrusion, open bite, two-year retardation in age of eruption, agenesis of the permanent mandibular central incisors in all of the brothers, and a marked oligodontia in the oldest. Despite difficulties in management, the dental treatment for caries and gingivitis could be completed on the brothers without sedation.