Osteogenesis imperfecta (OI) is a heterogeneous group of heritable disorders of bone characterize... more Osteogenesis imperfecta (OI) is a heterogeneous group of heritable disorders of bone characterized by increased susceptibility to fracture. Most of the causative mutations were identified in patients with the lethal form of the disease. Attention is now shifting to the milder forms of OI where glycine substitutions and null producing mutations have been found. Single amino acid substitutions can be
To assess whether individuals born with nonsyndromic oral clefts displayed a higher frequency of ... more To assess whether individuals born with nonsyndromic oral clefts displayed a higher frequency of dental anomalies. Information not available. Systematic review with meta-analysis of the data. Level 2: Limited-quality, patient-oriented evidence. Grade B: Inconsistent or limited-quality patient-oriented evidence.
This article was meant to be a very cursory survey of the multiple defects that abnormal developm... more This article was meant to be a very cursory survey of the multiple defects that abnormal development can produce in all areas of the craniofacial complex. Careful examination for these abnormalities should lead the clinician to earlier referral of patients for additional examination by a genetics team. This often enables more focused care for the individual and better counseling concerning future pregnancies. Aase points out that "funny looking face" or "syndromic facies" is no longer helpful. Accurate assessment of the face with measurement leads to better diagnosis and ultimately better patient care. All children with facial defects deserve early intervention by a multidisciplined craniofacial team including geneticists, surgeons, dentists, speech pathologists, and other specialists. Part of the process of early referral to this team involves early detection and recognition in the neonatal period. It is hoped that this article stimulates the pediatrician to be aware of these abnormalities, recognize their importance, and seek additional help for patients, no matter what their age.
The purpose of this descriptive clinical study was to determine the prevalence rates of taurodont... more The purpose of this descriptive clinical study was to determine the prevalence rates of taurodontism and learning disabilities in a sample of patients with Klinefelter syndrome. Questionnaires and dental radiographs of Klinefelter syndrome patients were obtained and analyzed using previously published methods. Prevalence rates were determined for taurodontism and learning disabilities in the sample population and compared to the general population. Statistical analyses included a Fisher's exact 2-sided test to compare the prevalence rates to that found in the general population and subsequent determination of the positive predictive value. Taurodontism was found in 75% of the 24 participants. Eighty-three percent of the participants reported having a learning disability. These rates are significantly higher than the general population, as reported in the literature. The positive predictive value for Klinefelter syndrome, given a male patient with taurodontism and a learning disability, is 84%. In this case, the dentist should recommend karyotyping to the patient, parent, or physician. This demonstrates how important it is for dentists to understand and assist physicians in the diagnosis of genetic disorders.
Osteogenesis imperfecta (OI) is a heterogeneous group of heritable disorders of bone characterize... more Osteogenesis imperfecta (OI) is a heterogeneous group of heritable disorders of bone characterized by increased susceptibility to fracture. Most of the causative mutations were identified in patients with the lethal form of the disease. Attention is now shifting to the milder forms of OI where glycine substitutions and null producing mutations have been found. Single amino acid substitutions can be
To assess whether individuals born with nonsyndromic oral clefts displayed a higher frequency of ... more To assess whether individuals born with nonsyndromic oral clefts displayed a higher frequency of dental anomalies. Information not available. Systematic review with meta-analysis of the data. Level 2: Limited-quality, patient-oriented evidence. Grade B: Inconsistent or limited-quality patient-oriented evidence.
This article was meant to be a very cursory survey of the multiple defects that abnormal developm... more This article was meant to be a very cursory survey of the multiple defects that abnormal development can produce in all areas of the craniofacial complex. Careful examination for these abnormalities should lead the clinician to earlier referral of patients for additional examination by a genetics team. This often enables more focused care for the individual and better counseling concerning future pregnancies. Aase points out that "funny looking face" or "syndromic facies" is no longer helpful. Accurate assessment of the face with measurement leads to better diagnosis and ultimately better patient care. All children with facial defects deserve early intervention by a multidisciplined craniofacial team including geneticists, surgeons, dentists, speech pathologists, and other specialists. Part of the process of early referral to this team involves early detection and recognition in the neonatal period. It is hoped that this article stimulates the pediatrician to be aware of these abnormalities, recognize their importance, and seek additional help for patients, no matter what their age.
The purpose of this descriptive clinical study was to determine the prevalence rates of taurodont... more The purpose of this descriptive clinical study was to determine the prevalence rates of taurodontism and learning disabilities in a sample of patients with Klinefelter syndrome. Questionnaires and dental radiographs of Klinefelter syndrome patients were obtained and analyzed using previously published methods. Prevalence rates were determined for taurodontism and learning disabilities in the sample population and compared to the general population. Statistical analyses included a Fisher's exact 2-sided test to compare the prevalence rates to that found in the general population and subsequent determination of the positive predictive value. Taurodontism was found in 75% of the 24 participants. Eighty-three percent of the participants reported having a learning disability. These rates are significantly higher than the general population, as reported in the literature. The positive predictive value for Klinefelter syndrome, given a male patient with taurodontism and a learning disability, is 84%. In this case, the dentist should recommend karyotyping to the patient, parent, or physician. This demonstrates how important it is for dentists to understand and assist physicians in the diagnosis of genetic disorders.
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