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1.
Clin Radiol ; 79(3): e417-e423, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38143227

RESUMEN

AIM: To investigate the relationship between temporomandibular disorders (TMD) and the stomatognathic system and spine through a multidisciplinary approach, utilising ultrasound to assess the temporomandibular joint. MATERIALS AND METHODS: Between October 2020 and January 2021, 50 patients aged 12-18 years with adolescent idiopathic scoliosis and 50 healthy individuals were enrolled. All participants underwent clinical examinations based on the Diagnostic Criteria for Temporomandibular Disorders (DC/TMD) protocol. Additionally, ultrasound evaluations were performed of the temporomandibular joint and masseter muscles. Subsequently, the data from both groups were compared and analysed. RESULTS: The mean age of participants was 14.69 ± 2.73 years in the scoliosis group (SG) and 14.68 ± 1.81 years in the control group (CG). Among scoliosis patients, a moderate negative correlation was observed between the Cobb angle (indicative of curvature severity) and mouth opening (p=0.023; r=-0.320). Furthermore, the incidence of TMD was significantly higher in the scoliosis group compared to the control group (p<0.001). Additionally, it was found that a 1-unit increase in joint space elastography value led to a 4.81-fold higher likelihood of diagnosing disc displacement with reduction (p=0.009; 95% CI: 1.47-15.73). CONCLUSION: This pioneering study, the first of its kind to explore the connection between scoliosis and ultrasound-based temporomandibular joint screening, suggests that scoliosis may be a predisposing factor for TMD. Moreover, the present findings underscore the importance of joint elastography as a valuable quantitative tool in TMD diagnosis.


Asunto(s)
Escoliosis , Trastornos de la Articulación Temporomandibular , Adolescente , Humanos , Niño , Estudios Transversales , Escoliosis/complicaciones , Escoliosis/diagnóstico por imagen , Trastornos de la Articulación Temporomandibular/complicaciones , Trastornos de la Articulación Temporomandibular/diagnóstico por imagen , Articulación Temporomandibular/diagnóstico por imagen , Ultrasonografía
2.
Bratisl Lek Listy ; 123(2): 92-99, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35065584

RESUMEN

BACKGROUND: The present study evaluated vitamin D therapy in migraine patients with vitamin D deficiency and EEG abnormality. METHODS: 140 patients were divided into four groups: Group A; normal vitamin D and EEG, Group B; low vitamin D and normal EEG, Group C; normal vitamin D and pathological EEG, and Group D; low vitamin D and pathological EEG. Patients with low vitamin D received vitamin D therapy. RESULTS: Paediatric Migraine Disability Assessment Scale (PedMIDAS) scores and median attack frequencies time-dependent changes in the patients receiving vitamin D therapy in Group B were significant (p 0.05). Interictal EEG was pathological in 41 (29.3 %) patients. The main EEG findings were focal/hemispheric spike/sharp wave activity at 9.3 %, bilateral/generalized spike/sharp wave activity at 8.6 %, focal slowing at 5.8 %, and bilateral slow-wave activity/background rhythm irregularity at 3.6 %. Changes in EEG findings in between the groups C and D were not significant (p >0.05). There was no significant association between vitamin D levels 0.05). CONCLUSION: Vitamin D therapy positively affects attack frequency and PedMIDAS scores in migraine patients with vitamin D deficiency/insufficiency. No association was determined between EEG findings and vitamin D levels or therapy (Tab. 6, Ref. 35).


Asunto(s)
Trastornos Migrañosos , Deficiencia de Vitamina D , Niño , Electroencefalografía , Humanos , Trastornos Migrañosos/tratamiento farmacológico , Vitamina D , Deficiencia de Vitamina D/tratamiento farmacológico , Vitaminas
3.
Andrologia ; 49(5)2017 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-27681841

RESUMEN

The aim of this study was to investigate whether vitamin B12 levels are associated with premature ejaculation (PE). A total of 109 subjects (56 PE and 53 controls) were included in this study. PE was defined as self-reported intravaginal ejaculatory latency time (IELT) based on the Diagnostic and Statistical Manual of Mental Disorders IV criteria and those who had had an IELT of <2 min was considered as PE. All participants were evaluated using premature ejaculation diagnostic tool (PEDT), International Index of Erectile Function (IIEF) and Beck Depression Inventory (BDI). The vitamin 12 levels were measured in all subjects. The mean age between the PE and controls was comparable (p = .084). Mean IIEF and BDI scores between the two groups did not statistically differ. The mean IELT values in the PE group were significantly lower than in the control group (p < .0001). PE patients reported significantly lower vitamin B12 levels compared with the controls (213.14 vs. 265.89 ng ml-1 ; p < .001). The ROC analysis showed a significant correlation between the diagnosis of PE and lower vitamin B12 levels. This study has demonstrated that lower vitamin B12 levels are associated with the presence of PE. This work also shows a strong correlation between vitamin B12 levels and the PEDT scores as well as the IELT values.


Asunto(s)
Eyaculación Prematura/sangre , Vitamina B 12/sangre , Adulto , Índice de Masa Corporal , Estudios de Casos y Controles , Eyaculación/fisiología , Humanos , Masculino , Curva ROC , Vitamina B 12/fisiología
4.
Genet Couns ; 20(2): 173-9, 2009.
Artículo en Inglés | MEDLINE | ID: mdl-19650415

RESUMEN

To present the new karyotype with mixed gonadal dysgenesis, the aetiologic approach and difficulties in genetic counseling in mosaic sex chromosome disorders. We report a fourteen-year-old boy presented with slightly ambigious genitalia. Cytogenetic and fluorescence in situ hybridization investigations were carried out on his peripheral lymphocytes. As a result, three cell lines, 45,X, 46,X,idic(Y)(q11.2) and 46, XY were observed. A markedly higher percentage of Y-containing cells was observed in the blood (68%), which was not considered to be the major reason why the case did not have distinct ambiguous genitalia. We suggest that study of cytogenetic and molecular mosaicism involving sex chromosomes may help to further unravel the mysterious process in mixed gonadal dysgeneic patients.


Asunto(s)
Cromosomas Humanos Y/genética , Disgenesia Gonadal Mixta/genética , Cariotipificación , Mosaicismo , Aberraciones Cromosómicas Sexuales , Proteína de la Región Y Determinante del Sexo/genética , Adolescente , Bandeo Cromosómico , Trastornos del Desarrollo Sexual/diagnóstico , Trastornos del Desarrollo Sexual/genética , Disgenesia Gonadal 46 XY/diagnóstico , Disgenesia Gonadal 46 XY/genética , Disgenesia Gonadal Mixta/diagnóstico , Humanos , Hibridación Fluorescente in Situ , Masculino , Síndrome de Turner/diagnóstico , Síndrome de Turner/genética
5.
J Endocrinol Invest ; 30(11): 920-4, 2007 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-18250612

RESUMEN

Iodine deficiency (ID) remains a significant global public health problem. The iodine status of rural areas of Kayseri Province, Central Anatolia was previously evaluated but a screening survey covering both rural and urban populations had not been conducted. The aims of this study were: a) to determine the nutritional iodine status by calculating urinary iodine excretion (UIE) of the school-children living in the districts, city centre and villages of Kayseri Province; b) to implement preventive measures. The study group was made up of 1,784 school-children (920, 51.6% females; 864, 48.4% males), aged between 7 and 12 yr. Height and weight of children were measured and urine samples were collected. The median UIE of all school-children was 25.5+/-17.2 microg/l. Iodine status of the population was gauged based on median urinary iodine values categorised as normal (> or =100 microg/l), mild (50- 99 microg/l), moderate (20-49 microg/l) and severe (<20 microg/l) ID and classified according to age, gender and body mass index (BMI). While UIE of 289 school-children (16.2%) was in normal range (> or =100 microg/l), 747 of school-children (41.9%) had UIE <20 microg/l. Although there was no significant difference in UIE of female children based on their BMI (p>0.05), in overweight and obese male children UIE was significantly higher than in normal or underweight children (p<0.001). In Kayseri, moderate and almost severe ID affects public health from intrauterine to advanced stages of life. This is due to geographical characteristics of this area causing insufficient amounts of iodine in the drinking water and traditional nutritional habits of the families. The local "Iodine Monitoring Committee" developed an action plan including information/education/ communication activities to sustain monitoring so as to increase the inclusion of iodized salt in the region.


Asunto(s)
Enfermedades Carenciales/epidemiología , Yodo/deficiencia , Salud Pública/tendencias , Índice de Masa Corporal , Niño , Enfermedades Carenciales/prevención & control , Enfermedades Carenciales/orina , Femenino , Educación en Salud/tendencias , Encuestas Epidemiológicas , Humanos , Yodo/uso terapéutico , Yodo/orina , Masculino , Prevalencia , Cloruro de Sodio Dietético/uso terapéutico , Turquía/epidemiología
6.
Int J Impot Res ; 16(6): 540-3, 2004 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-15116064

RESUMEN

The aim of this study was to analyze characteristics of patients with Peyronie's disease (PD) diagnosed during a standard evaluation for erectile dysfunction (ED) and compare them with patients presenting with the classical complaints of PD. During a 10-y period, a total of 448 patients were evaluated at our two outpatient clinics, directed by the same author (AK). They were divided into two groups: group I consisted of patients, who presented with only ED and were unaware of their penile deformity, and group II consisted of patients with the classical features of the disease. The clinical characteristics, penile deformities, erectile status and the presence of comorbidities were determined in the two groups. Of 448 Peyronie's patients, 16% (n=71) were detected during diagnostic work-up for ED. In this group of patients, ED was the presenting symptom for a mean period of 31.3+/-9.7 months. The mean age of men was 57.54+/-8.75 and 52.21+/-10.27 y in groups I and II, respectively (P=0.0001). The mean degree of deformity was 31.5+/-12.66 degrees in group I and 41.16+/-19.14 degrees in group II (P=0.0001). In group I (n=71), 69% (n=49) of the patients had a poor erectile response to the combined injection and stimulation (CIS) test. Also, in this group, the mean degrees of deformity in CIS-positive and -negative patients were 27.05+/-12.50 and 33.80+/-12.03 degrees , respectively (P=0.033). Diabetes mellitus (40%) was the leading comorbidity in group I, while at least one comorbidity was observed in 73% of the cases (P=0.001). A remarkable percent of Peyronie's patients (16%) were detected during a standard evaluation for ED. This study analyzed, for the first time, the frequency and the characteristics of incidentally diagnosed Peyronie's patients who presented with only ED. Our data indicate that one should always consider the possibility of PD in older patients with diabetes, presenting with only ED.


Asunto(s)
Disfunción Eréctil/diagnóstico , Induración Peniana/diagnóstico , Adulto , Anciano , Complicaciones de la Diabetes , Disfunción Eréctil/complicaciones , Humanos , Hipercolesterolemia/complicaciones , Impotencia Vasculogénica/complicaciones , Impotencia Vasculogénica/diagnóstico , Masculino , Persona de Mediana Edad , Papaverina , Erección Peniana , Induración Peniana/complicaciones , Induración Peniana/fisiopatología , Pene/irrigación sanguínea , Pene/diagnóstico por imagen , Ultrasonografía Doppler
7.
Int J Impot Res ; 15(3): 198-202, 2003 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-12904806

RESUMEN

To evaluate genital and extragenital somatic sensory system in diabetic women using biothesiometry and investigate the relation with sexual dysfunction. A total of 30 diabetic women and 20 normal sexually active women as a control group were evaluated with a detailed medical and sexual history including Index of Female Sexual Function (IFSF) questionnaire. Somatic sensory system of all women enrolled to the study was assessed by biothesiometry and threshold sensory values of nine genital sites and 14 extragenital sites were analyzed. The IFSF score in diabetic women was 23.6 while it was 38.3 in the control group (&<0.0005). For each genital as well as extragenital sites, the mean biothesiometric values were significantly higher in diabetics. The sensation of introitus vagina, labium minora and clitoris were found to be the most deteriorated genital sites in diabetic women. The difference between diabetic women with or without female sexual dysfunction (FSD) was not significant for biothesiometric values. Our data indicate that, somatic sensory system is affected by diabetes however sexual dysfunction does not always manifest.


Asunto(s)
Complicaciones de la Diabetes , Diabetes Mellitus/fisiopatología , Sensación , Disfunciones Sexuales Fisiológicas/etiología , Disfunciones Sexuales Fisiológicas/fisiopatología , Adulto , Estudios de Casos y Controles , Femenino , Genitales Femeninos/fisiopatología , Humanos , Persona de Mediana Edad , Umbral Sensorial , Encuestas y Cuestionarios
8.
J Pediatr Endocrinol Metab ; 13(5): 553-6, 2000 May.
Artículo en Inglés | MEDLINE | ID: mdl-10803874

RESUMEN

To assess the seroprevalence of Helicobacter pylori (HP) in children with insulin dependent diabetes mellitus, a serological test for Helicobacter pylori (anti-HP IgG with ELISA) was performed in 88 diabetic and 42 healthy control children. Anti-HP IgG was positive in 49/88 (55.6%) of diabetics and 13/42 (30.9%) of controls (p<0.01). Diabetic children were divided into two groups according to HP status: HP(+) and HP(-). The two groups were compared for age, gender, duration of diabetes, diabetic control (HbA1c), SDS for height and gastric emptying time. Seroprevalence of HP was higher in IDDM patients than in healthy controls. Duration of diabetes was the only factor which correlated significantly with HP status. HP status was not related to gastric emptying time.


Asunto(s)
Diabetes Mellitus Tipo 1/complicaciones , Infecciones por Helicobacter/complicaciones , Adolescente , Adulto , Anticuerpos Antibacterianos/análisis , Niño , Preescolar , Ensayo de Inmunoadsorción Enzimática , Femenino , Infecciones por Helicobacter/epidemiología , Helicobacter pylori , Humanos , Inmunoglobulina G/análisis , Masculino , Estudios Seroepidemiológicos
9.
J Pediatr Endocrinol Metab ; 13(9): 1629-31, 2000.
Artículo en Inglés | MEDLINE | ID: mdl-11154159

RESUMEN

Turner's syndrome is a chromosomal disease frequently associated with autoimmune disorders including thyroid disease, inflammatory bowel disease, diabetes mellitus and juvenile rheumatoid arthritis. Recent reports have described an association of celiac disease with Turner's syndrome. We present an additional patient with Turner's syndrome associated with celiac disease. A girl aged 15- 7/12 yr was seen for the complaints of delayed growth and puberty, abdominal pain and chronic diarrhea. She was diagnosed as having celiac disease and a gluten-free diet was initiated. Despite one year of strict diet no signs of puberty were observed. She was then evaluated again for absence of puberty, and 45,XO karyotype Turner's syndrome was diagnosed.


Asunto(s)
Enfermedad Celíaca/complicaciones , Síndrome de Turner/complicaciones , Adolescente , Enfermedad Celíaca/dietoterapia , Femenino , Humanos , Cariotipificación , Síndrome de Turner/diagnóstico , Síndrome de Turner/genética , Síndrome de Turner/patología
10.
J Pediatr Endocrinol Metab ; 14(8): 1157-9, 2001.
Artículo en Inglés | MEDLINE | ID: mdl-11592575

RESUMEN

The drugs used to treat diabetes mellitus are diverse and include several classes. One class is sulfonylureas which primarily cause serum glucose reduction by stimulating the release of preformed insulin from the pancreatic islets. Gliclazide, a second generation sulfonylurea, is used to control glycemic levels in non-insulin-dependent diabetes mellitus. We report a 14 year-old non-diabetic girl who developed hepatitis, hemiplegia and dysphasia after ingestion of an overdose of gliclazide (20 mg/kg/day) in a suicide attempt. Our purpose is to draw attention to the severity of gliclazide-induced neurological signs. To the best of our knowledge, gliclazide-induced hemiplegia and dysphasia have not been previously reported in the literature.


Asunto(s)
Afasia/inducido químicamente , Enfermedad Hepática Inducida por Sustancias y Drogas , Gliclazida/envenenamiento , Hemiplejía/inducido químicamente , Hipoglucemiantes/envenenamiento , Intento de Suicidio , Adolescente , Electroencefalografía , Femenino , Humanos , Tomografía Computarizada de Emisión de Fotón Único
11.
J Pediatr Endocrinol Metab ; 9(4): 475-82, 1996.
Artículo en Inglés | MEDLINE | ID: mdl-8910817

RESUMEN

Pubertal development has recently been evaluated from the standpoint of changes in insulin-like growth factor (IGF)-I and IGF-binding protein-3 (IGFBP-3) levels in healthy children. We studied puberty related changes in serum IGF-I and IGFBP-3 levels in 24 patients (11 prepubertal) with insulin dependent diabetes mellitus (IDDM) and 26 healthy subjects (14 prepubertal). Serum IGF-I and IGFBP-3 levels were assayed using immunoradiometric assays and radioimmunoassays, respectively. Serum IGF-I and IGFBP-3 levels in diabetics did not increase during puberty, as opposed to those in healthy children. Serum IGF-I and IGFBP-3 levels of diabetic patients were found to be lower than those of control subjects during puberty (p < 0.0001 and p < 0.05, respectively). Proteolysis is believed to be a general mechanism to increase IGF bioavailability in the presence of IGFBPs. Increased IGFBP-3 protease activity has been shown in sera of children with IDDM as well as a decrease in this activity in response to insulin therapy. Our data displaying low IGFBP-3 levels in diabetic children may be due to increased proteolysis, which also causes a shift in IGF-I to its lower molecular weight forms. Higher rate of clearance of the latter may be the reason for the low IGF-I levels we observed in children with IDDM. The moderate correlation between insulin dose and IGFBP-3 levels (r = 0.5, p < 0.01) may suggest insulin to be a contributing factor in the regulation of IGFBP-3 levels. We conclude that regulation of IGF-I and IGFBP-3 concentrations is disturbed in children with IDDM, in particular during adolescence.


Asunto(s)
Diabetes Mellitus Tipo 1/sangre , Proteína 3 de Unión a Factor de Crecimiento Similar a la Insulina/sangre , Factor I del Crecimiento Similar a la Insulina/metabolismo , Adolescente , Estatura , Niño , Preescolar , Diabetes Mellitus Tipo 1/tratamiento farmacológico , Femenino , Humanos , Insulina/administración & dosificación , Masculino , Pubertad/fisiología , Valores de Referencia
12.
Turk J Pediatr ; 40(4): 609-12, 1998.
Artículo en Inglés | MEDLINE | ID: mdl-10028873

RESUMEN

X-linked agammaglobulinemia and isolated growth hormone deficiency was first described in 1980 and then classified as a different primary immune deficiency. Delayed puberty in patients with X-linked agammaglobulinemia may result in delayed secretion of growth hormone (GH). To determine true isolated growth hormone deficiency. GH stimulation tests and other hypophyseal hormone evaluations must be performed. In this paper, we report a 15-year-old boy with X-linked agammaglobulinemia and isolated growth hormone deficiency, and review related literature.


Asunto(s)
Agammaglobulinemia/genética , Hormona de Crecimiento Humana/deficiencia , Adolescente , Agammaglobulinemia/terapia , Ligamiento Genético , Hormonas/sangre , Hormona de Crecimiento Humana/sangre , Humanos , Masculino , Cromosoma X
13.
Int Urol Nephrol ; 29(1): 85-9, 1997.
Artículo en Inglés | MEDLINE | ID: mdl-9203043

RESUMEN

To evaluate our diagnosis and treatment policy of penile fractures, we reviewed 13 cases treated between August 1992 and August 1995. In ten patients early surgical correction, in one patient an elective surgical intervention was carried out. Two patients with minimal haematoma were suggested to undergo conservative treatment, but only one of them came to the control examination and he complained of fixed induration, pain and mild deviation in erection. In the group of early surgical repair there was no complication. In a patient who had had a delayed procedure small induration and minimal deviation were found. In the light of these findings we think that in penile fractures early surgical repair produces the best results.


Asunto(s)
Pene/lesiones , Adulto , Humanos , Masculino , Persona de Mediana Edad , Rotura , Heridas y Lesiones/terapia
14.
Andrology ; 2(2): 219-24, 2014 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-24357639

RESUMEN

The objective of this study was to determine the prevalence of male pelvic dysfunction (MPD) and its correlation in men ≥40 years of age in a population-based study. This study was designed as a non-interventional, observational, cross-sectional field survey. Participating males of ≥40 years were randomly selected from 19 provinces of Turkey. All participants were asked to complete a survey including data regarding demographics, socio-economic status, socio-cultural factors, medical and sexual history, current medications, comorbidities and three validated questionnaires assessing lower urinary tract symptoms (International Prostate Symptom Score), erectile dysfunction (International Index of Erectile Function) and ejaculatory behaviour (Male Sexual Health Questionnaire-4). MPD was defined by combining abnormal scores calculated from all three questionnaires. All data were analysed statistically and p < 0.05 was accepted as significant. A total of 2730 males of ≥40 years (mean, 54.2 ± 10.6 years) were enrolled in this study. The prevalence of MPD was calculated as 24.4% among all participants. The prevalence of MPD was lowest at age between 40 and 49 years (9.1%) and highest at ≥70 years (76.6%), exhibiting correlation with age. Each decade of increase in age was associated with a 3.4-fold increase in presence of MPD. At logistic regression analyses; age, diabetes, hypertension, dyslipidemia, cardiovascular disease, obesity and lower income were found to be independent predictors for increased prevalence of MPD. This study reports prevalence of MPD as 24.4% in males of ≥40 years. Furthermore, age was found to be the main independent predictor of having MPD.


Asunto(s)
Disfunción Eréctil/epidemiología , Síntomas del Sistema Urinario Inferior/epidemiología , Pelvis/patología , Eyaculación Prematura/epidemiología , Factores de Edad , Anciano , Enfermedades Cardiovasculares , Causalidad , Estudios Transversales , Diabetes Mellitus , Dislipidemias , Eyaculación/fisiología , Humanos , Hipertensión , Masculino , Persona de Mediana Edad , Obesidad , Pobreza , Salud Reproductiva , Conducta Sexual , Encuestas y Cuestionarios , Turquía
16.
Urol Int ; 79(1): 73-5, 2007.
Artículo en Inglés | MEDLINE | ID: mdl-17627173

RESUMEN

AIMS: To investigate the therapeutic effect of the fast-dissolving dosage form (FDDF) of sublingual piroxicam on renal colic compared with the intramuscular (IM) injection form of the same agent in a randomized, double-blind, placebo-controlled clinical trial. METHODS: 80 patients were assigned to one of two treatment groups: Group 1 received 40 mg piroxicam FDDF sublingual tablets and IM injection of 2 ml distilled water. Group 2 received an IM injection of 40 mg piroxicam and two sublingual tablets of placebo. At baseline and 30 min after the medication, vital signs were recorded and the pain intensity was evaluated by the patient using a numeric rating scale. RESULTS: The overall efficacy of the treatment was 90%. There was no significant difference with respect to the required rescue treatment (p = 0.328), pain relapse within 24 h (p = 0.434) and the decrease in vital signs and numeric rating scale in both groups (p > 0.05). CONCLUSION: The piroxicam FDDF tablet was found to be as effective as the IM injection form of the same agent in the treatment of renal colic. The FDDF is a good alternative to the parenteral form because of its earlier onset of action and ease of self-administration which increases patient compliance.


Asunto(s)
Antiinflamatorios no Esteroideos/administración & dosificación , Cólico/tratamiento farmacológico , Enfermedades Renales/tratamiento farmacológico , Piroxicam/administración & dosificación , Administración Sublingual , Adolescente , Adulto , Anciano , Método Doble Ciego , Femenino , Humanos , Inyecciones Intramusculares , Masculino , Persona de Mediana Edad
18.
Hum Genet ; 97(4): 540-2, 1996 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-8834259

RESUMEN

Congenital alacrima is an autosomal dominant disorder showing markedly deficient lacrimation and punctate corneal epithelial erosions. The G (Opitz-Frias) syndrome is also an autosomal dominant disorder characterised by hypertelorism, hypospadias, stridor, and dysphagia. Here we report a 5-year-old boy with the G syndrome presenting congenital alacrima.


Asunto(s)
Anomalías Múltiples , Aparato Lagrimal/anomalías , Preescolar , Esófago/anomalías , Cara/anomalías , Humanos , Laringe/anomalías , Masculino , Síndrome
19.
Clin Genet ; 51(1): 61-4, 1997 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-9084938

RESUMEN

Male and female cousins, the offspring of consanguineous Turkish parents, have been affected by a hitherto unreported combination of problems comprising moderate to severe psychomotor developmental delay, ocular anterior chamber abnormality, facial dysmorphisms (broad, bossed forehead, late-closing fontanelle, telecanthus, downslanting palpebral fissures, posteriorly rotated ears, downturned angles of mouth), arachnodactyly and distal arthrogryposis with severely adducted thumbs and club feet. This striking phenotype has some similarities with the multiple pterygium syndrome (Escobar syndrome), but it most likely represents a distinct condition caused by an autosomal recessive gene defect.


Asunto(s)
Anomalías Múltiples/genética , Deformidades Congénitas del Pie/genética , Genes Recesivos , Pulgar/anomalías , Adulto , Preescolar , Aberraciones Cromosómicas/genética , Trastornos de los Cromosomas , Consanguinidad , Cara/anomalías , Femenino , Humanos , Hipertelorismo/genética , Lactante , Recién Nacido , Masculino , Embarazo , Trastornos Psicomotores/genética , Turquía
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