Myotonic dystrophy and craniofacial morphology: clinical and instrumental study.

نویسندگان

  • M Portelli
  • G Matarese
  • A Militi
  • R Nucera
  • G Triolo
  • G Cordasco
چکیده

AIM The aim of this study is to assess if, and to what extent, myotonic dystrophy can affect the craniofacial growth pattern. MATERIALS AND METHODS The research was conducted on a sample of 27 patients with Steinert's myotonic dystrophy (study group). Each subject underwent a clinical examination with impression-taking and intra- and extraoral photographs. A latero-lateral projection teleradiography in the mirror position was also taken and a cephalometric examination was performed. The assessed values were compared with those obtained from a group of healthy subjects (control group). RESULTS Statistical analysis of the data obtained from the myotonic patients who developed the disease during the growth phase revealed alterations in the transversal plane and, to an even greater extent, the vertical one, with a high frequency of anterior open bite. Discussion and conclusions Regarding the pathogenesis of these types of skeletal dysplasias, the authors hypothesise a posterior rotation growth pattern, resulting from gravitational force prevailing over the deficit of the elevator muscles.

برای دانلود رایگان متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Muscle function and craniofacial morphology: a clinical study in patients with myotonic dystrophy.

The occlusal traits and the craniofacial morphology were studied in patients with an altered muscle function caused by myotonic dystrophy. Twenty-four adult patients were examined and compared with a matched group of healthy individuals. The condition of the masticatory muscles was evaluated by measuring the maximal bite force. The dental arches and the occlusal traits were analysed on dental c...

متن کامل

Genotype–Phenotype Correlations in Iranian Myotonic Dystrophy Type I Patients

Objectives: Myotonic Dystrophy type I (DM1) is a dominantly inherited disorder with a multisystemic pattern affecting skeletal muscle, heart, eye, endocrine and central nervous system. DM1 is associated with the expansion and instability of CTG repeat in the 3chr('39') untranslated region of the myotonic dystrophy protein kinase (DMPK) gene located on chromosome 19q13.3. The aim of this study w...

متن کامل

Expandable DNA Repeat and Human Hereditary Disorders

Background & Aims: Nearly 30 hereditary disorders in humans result from an increase in the number of copies of simple repeats in genomic DNA, including fragile X syndrome, myotonic dystrophy, Huntington’s disease, and Friedreich’s ataxia. One the most frequently occurring types of mutation is trinucleotide repeat expansion. The present study was conducted with the aim of investigating the cause...

متن کامل

Congenital myotonic dystrophy in Britain. I. Clinical aspects.

A clinical and genetic study of congenital myotonic dystrophy in Britain has been carried out in 70 patients from 54 sibships. The clinical aspects are analysed here, and the existence of a syndrome clinically distinct from myotonic dystrophy of later onset is confirmed. Characteristic features included neonatal hypotonia, motor and mental retardation, and facial diplegia. A high incidence of t...

متن کامل

Congenital myotonic dystrophy in Britain

Harper, P. S. (1975). Archives of Disease in Childhood, 50, 505. Congenital myotonic dystrophy in Britain. I. Clinical aspects. A clinical and genetic study of congenital myotonic dystrophy in Britain has been carried out in 70 patients from 54 sibships. The clinical aspects are analysed here, and the existence of a syndrome clinically distinct from myotonic dystrophy of later onset is confirme...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

عنوان ژورنال:
  • European journal of paediatric dentistry : official journal of European Academy of Paediatric Dentistry

دوره 10 1  شماره 

صفحات  -

تاریخ انتشار 2009