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Query: UMLS:C0028754 (obesity)
 124,988 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A familial complex chromosomal rearrangement (CCR) was ascertained through a mentally retarded, dysmorphic individual. Carriers of the CCR have the karyotype 46,XX or XY, t(6;15)(q16;q21), ins(3;6)(q12;q14q16), and malsegregation of the CCR resulted in loss of the segment 6q14 to 6q16 in the proband, and in an additional copy of the same segment in three members of the extended family. The proband has features similar to other reported cases with deletion of 6q1. The individuals with duplication of 6q14 to 6q16 have moderate mental retardation, short stature, obesity, microcephaly, brachycephaly, a short smooth philtrum, central hair whorl, simian creases, 5th finger brachydactyly and skeletal disproportion. In the 4-generation family, CCR carriers have a 20% empiric risk of phenotypically abnormal livebirths.
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PMID:Familial complex chromosomal rearrangement resulting in duplication/deletion of 6q14 to 6q16. 850 Feb 57

Prediction formulae for sleep-disordered breathing can be useful for excluding a diagnosis, establishing an a priori probability of having a positive test, and for prioritizing patient testing. In general, prediction models have high sensitivity but low specificity. In a study analyzing the performance of four previously described prediction models, sensitivities ranged from 76% to 96%, specificities ranged from 13% to 54%, while positive predictive values ranged between 69% and 77%. The models were useful in identifying patients with a respiratory disturbance index of > or = 20 so that these patients could undergo alternative diagnostic testing strategies. The Berlin Questionnaire was tested in primary care settings and was able to identify high-risk patients fairly accurately. A regression neural network performed well with a sensitivity of 99%, a specificity of 80%, a positive predictive value of 88%, and a negative predictive value of 98%. In obese snorers, a regression model utilizing daytime arterial O2 saturation and specific respiratory conductance was effective for excluding obstructive sleep apnea (OSA). In congestive heart failure patients, risk factors for central sleep apnea include male gender, atrial fibrillation, age >60 years, and wake time PaCO2 <38 mm Hg. In children, risk factors for sleep apnea include obesity, African-American race, sinus problems, and persistent wheezing. There are also racial anthropomorphic differences in OSA patients, with whites having a tendency towards brachycephaly facial types (reduced anterior-posterior cranial dimension) and African-Americans having a tendency toward leptoproscopic facial types (longer facial height and decreased facial width). Further refinement of prediction formulae will improve diagnostic accuracy.
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PMID:Prediction formulae for sleep-disordered breathing. 1170 12

We describe a brother and sister with craniofacial dysmorphism, short stature, relative obesity, sensorineural deafness, multiple pigmented naevi and severe mental retardation. One sibling had keratoconus and the other had an iris coloboma. Dysmorphic features included brachycephaly, hypotelorism, small mouth, thin lips, pterygium colli, broad chest, widely spaced nipples and cutaneous second and third toe syndactyly. The children demonstrate some features of Noonan syndrome, but we believe that they have a different and distinctive phenotype. We have reviewed similar cases in the literature and discuss these in the context of our cases, who may have a previously undescribed syndrome.
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PMID:Short stature, sensorineural deafness, ocular abnormalities and severe mental retardation in two siblings. A new syndrome? 1519 55

Bardet-Biedl syndrome (BBS) and Laurence-Moon syndrome (LMS) have a similar phenotype, which includes retinal dystrophy, obesity, and hypogenitalism. They are differentiated by the presence of spasticity and the absence of polydactyly in LMS. The aims of this study were to describe the epidemiology of BBS and LMS, further define the phenotype, and examine genotype-phenotype correlation. The study involved 46 patients (26 males, 20 females) from 26 families, with a median age of 44 years (range 1-68 years). Assessments were performed in 1986, 1993, and 2001 and included neurological assessments, anthropometric measurements, and clinical photographs to assess dysmorphic features. The phenotype was highly variable within and between families. Impaired co-ordination and ataxia occurred in 86% (18/21). Thirty percent (14/46) met criteria for psychiatric illness; other medical problems included cholecystectomy in 37% (17/46) and asthma in 28% (13/46). Dysmorphic features included brachycephaly, large ears, and short, narrow palpebral fissures. There was no apparent correlation of clinical or dysmorphic features with genotype. Two patients were diagnosed clinically as LMS but both had mutations in a BBS gene. The features in this population do not support the notion that BBS and LMS are distinct. The lack of a genotype-phenotype correlation implies that BBS proteins interact and are necessary for the development of many organs.
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PMID:Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study. 1563 13

Smith-Magenis syndrome (SMS) is a multisystem disorder characterized by developmental delay and mental retardation, a distinctive behavioral phenotype, and sleep disturbance. We undertook a comprehensive meta-analysis to identify genotype-phenotype relationships to further understand the clinical variability and genetic factors involved in SMS. Clinical and molecular information on 105 patients with SMS was obtained through research protocols and a review of the literature and analyzed using Fisher's exact test with two-tailed p values. Several differences in these groups of patients were identified based on genotype and gender. Patients with RAI1 mutation were more likely to exhibit overeating, obesity, polyembolokoilamania, self-hugging, muscle cramping, and dry skin and less likely to have short stature, hearing loss, frequent ear infections, and heart defects when compared with patients with deletion, while a subset of small deletion cases with deletions spanning from TNFRSF13B to MFAP4 was less likely to exhibit brachycephaly, dental anomalies, iris abnormalities, head-banging, and hyperactivity. Significant differences between genders were also identified, with females more likely to have myopia, eating/appetite problems, cold hands and feet, and frustration with communication when compared with males. These results confirm previous findings and identify new genotype-phenotype associations including differences in the frequency of short stature, hearing loss, ear infections, obesity, overeating, heart defects, self-injury, self-hugging, dry skin, seizures, and hyperactivity among others based on genotype. Additional studies are required to further explore the relationships between genotype and phenotype and any potential discrepancies in health care and parental attitudes toward males and females with SMS.
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PMID:Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases. 1753 3

Carpenter syndrome is a rare autosomal recessive disorder that belongs to a group of rare craniosynostosis syndromes (Bull Soc Med Paris 1906;23:1310). Carpenter syndrome is the rarest, with only occasional patients seen. There are 3 common features in all of these syndromes: craniosynostosis (skull base abnormalities, with early fusion in different sutures), midface hypoplasia, and musculoskeletal abnormalities. Clinical features of Carpenter syndrome include peculiar facies, asymmetry of the skull, polydactyly, brachymesophalangy, mild soft tissue syndactyly, obesity, hypogenitalism, congenital heart disease, and mental retardation (J Pediatr 1966;69:1; Am J Roentgenol 1969;106). The brachycephaly is caused by early fusion in the coronal, sagittal, and lambdoidal sutures (Proc R Soc Med Sect Study Dis Child 1909). Most of the affected patients have a surgical procedure between 3 to 9 months of age to open the cranial vault to make space for the brain to grow (Plast Reconstr Surg 1978;62:335). We present a patient with Carpenter syndrome who is unusual in that she is an adult who has never had surgical intervention.
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PMID:Carpenter syndrome. 1916 41

The domestic dog may be the most morphologically diverse terrestrial mammalian species known to man; pedigree dogs are artificially selected for extreme aesthetics dictated by formal Breed Standards, and breed-related disorders linked to conformation are ubiquitous and diverse. Brachycephaly--foreshortening of the facial skeleton--is a discrete mutation that has been selected for in many popular dog breeds e.g. the Bulldog, Pug, and French Bulldog. A chronic, debilitating respiratory syndrome, whereby soft tissue blocks the airways, predominantly affects dogs with this conformation, and thus is labelled Brachycephalic Obstructive Airway Syndrome (BOAS). Despite the name of the syndrome, scientific evidence quantitatively linking brachycephaly with BOAS is lacking, but it could aid efforts to select for healthier conformations. Here we show, in (1) an exploratory study of 700 dogs of diverse breeds and conformations, and (2) a confirmatory study of 154 brachycephalic dogs, that BOAS risk increases sharply in a non-linear manner as relative muzzle length shortens. BOAS only occurred in dogs whose muzzles comprised less than half their cranial lengths. Thicker neck girths also increased BOAS risk in both populations: a risk factor for human sleep apnoea and not previously realised in dogs; and obesity was found to further increase BOAS risk. This study provides evidence that breeding for brachycephaly leads to an increased risk of BOAS in dogs, with risk increasing as the morphology becomes more exaggerated. As such, dog breeders and buyers should be aware of this risk when selecting dogs, and breeding organisations should actively discourage exaggeration of this high-risk conformation in breed standards and the show ring.
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PMID:Impact of Facial Conformation on Canine Health: Brachycephalic Obstructive Airway Syndrome. 2650 77

The prevalence of deformational plagiocephaly (DP) has increased since the recommendation of positioning infants to their back during sleeping and is affected by various biological and environmental factors. This study aimed to investigate associations between DP and perinatal or infant characteristics, including obesity. This case-control study included 135 infants (81 males) aged 2-12 months who were diagnosed with DP using calculated cranial vault asymmetric index and cranial index and 135 age- and sex-matched controls. Motor development was evaluated using the Alberta Infant Motor Scale, and obesity was defined by body mass index. Univariate and multivariate logistic regression models were used to assess potential risk factors for DP and its severity. One hundred thirty-five infants with DP were divided into the following three subgroups according to severity indicated by the cranial vault asymmetry index: mild to moderate group (n = 87, 64.4%), severe group (n = 48, 35.6%), and a combined plagiocephaly and brachycephaly group (n = 79, 58.5%). Independent risk factors significantly associated with development of DP were bottle-only feeding (adjusted odds ratio (aOR) = 4.65; 95% CI: 2.70-8.00), little tummy time when awake (aOR = 3.51, 95% CI: 1.71-7.21), delay of motor development (aOR = 2.85, 95% CI: 1.08-7.49), and obesity at diagnosis (aOR = 2.45, 95% CI: 1.02-5.90). Among these risk factors, delay of motor development (aOR = 4.91, 95% CI: 1.46-16.51) and obesity at diagnosis (aOR = 4.10, 95% CI: 1.42-11.90) were particularly related to severe DP. In conclusion, this study confirms that DP risk is positively associated with bottle-only feeding, infrequent tummy time, and delayed development of motor milestones. Notably, this study demonstrates infant obesity as a new risk factor for DP. Our findings suggest that obesity should be identified early and managed comprehensively in infants with DP.
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PMID:Delayed Motor Development and Infant Obesity as Risk Factors for Severe Deformational Plagiocephaly: A Matched Case-Control Study. 3326 62