1/11. Oral findings in digeorge syndrome: clinical features and histologic study of primary teeth.OBJECTIVE: For the purpose of supplementing the shortage of dental information about digeorge syndrome, we report two cases of the syndrome seen in Japanese boys. STUDY DESIGN: Two cases were compared with respect to orofacial and dental findings; one was a case of complete digeorge syndrome and the other a case of partial digeorge syndrome. Extracted deciduous teeth from the two boys underwent histologic study. RESULTS: Each patient showed systemic developmental delay, hypocalcemia, and slight mental retardation. In the orofacial area, hypertelorism, a short philtrum, thick and reflected lips, and hypoplasia of the nasopharynx were also observed. A dental examination showed delayed formation and eruption of permanent teeth, aplasia of the nasopharynx, and enamel hypoplasia along with enamel hypocalcification. Structural streaks with increased calcification were histologically detected in the deciduous tooth from the patient with complete digeorge syndrome. CONCLUSIONS: Common characteristic orofacial and dental findings were noted in the two digeorge syndrome cases. Furthermore, histologic study of the deciduous tooth from the boy with complete digeorge syndrome suggests that there was some relationship between transient relative hypercalcemia and dentinal hypermineralized streaking of the tooth.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
2/11. Clinical and immunological spectrum of partial digeorge syndrome.We present four cases of digeorge syndrome diagnosed at our center. Onset occurred during the neonatal period and was associated with severe congenital heart disease. In case 1, the patient had heart disease and absence of thymus. Total t-lymphocytes were 34%; total T4-lymphocytes were 27%. Stimulation test with phytohemagglutinin (PHA), concanavalin a (conA) and pokeweed mitogen were negative. Microdeletion was found in the chromosome 22q11 region. The second case involved heart disease, microstomia, round and rotated ears and branchial cyst. Total t-lymphocytes were 38% and total T4-lymphocytes 27%. Thymus was absent. Microdeletion in the chromosome 22q11 region. Case 3 showed heart disease, renal malformation, absence of thymus and parathyroid gland. The patient died 5 days postsurgery. Microdeletion was seen at chromosome 22q11. In the fourth case there was heart disease, microretrognathia, hypertelorism, short neck, absence of thymus and parathyroid glands. Total t-lymphocytes were 22%, total T4-lymphocytes 15%, and total T lymphocytes for pokeweed mitogen were negative. Microdeletion was found at chromosome 22q11. At the age of 13 days the patient died. The cases were recorded during a 2-year period, between 1997 and 1998. The prevalence of digeorge syndrome in the number of admissions for congenital heart disease among the neonates at our hospital was 3.14%. Presentation in the form of repeated infections is rare, since most cases of digeorge syndrome are partial, and functional cellular immunity is preserved.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
3/11. 22q11.2 duplication syndrome: two new familial cases with some overlapping features with DiGeorge/velocardiofacial syndromes.Twenty-one patients, including our two cases, with variable clinical phenotype, ranging from mild learning disability to severe congenital malformations or overlapping features with DiGeorge/velocardiofacial syndromes (DG/VCFS), have been shown to have a chromosome duplication 22q11 of the region that is deleted in patients with DG/VCFS. The reported cases have been identified primarily by interphase FISH and could have escaped identification and been missed by routine cytogenetic analysis. Here we report on two inherited cases, referred to us, to rule out 22q11 microdeletion diagnosis of VCFS. The first patient was a 2-month-old girl, who presented with cleft palate, minor dysmorphic features including short palpebral fissures, widely spaced eyes, long fingers, and hearing loss. Her affected mother had mild mental retardation and learning disabilities. The second patient was a 7(1/2)-year-old boy with velopharyngeal insufficiency and mild developmental delay. He had a left preauricular tag, bifida uvula, bilateral fifth finger clinodactyly, and bilateral cryptorchidism. His facial features appeared mildly dysmorphic with hypertelorism, large nose, and micro/retrognathia. The affected father had mild mental retardation and had similar facial features. FISH analysis of interphase cells showed three TUPLE1-probe signals with two chromosome-specific identification probes in each cell. FISH analysis did not show the duplication on the initial testing of metaphase chromosomes. On review, band q11.2 was brighter on one chromosome 22 in some metaphase spreads. The paucity of reported cases of 22q11.2 microduplication likely reflects a combination of phenotypic diversity and the difficulty of diagnosis by FISH analysis on metaphase spreads. These findings illustrate the importance of scanning interphase nuclei when performing FISH analysis for any of the genomic disorders.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
4/11. antiphospholipid antibodies syndrome associated with hyperhomocysteinemia related to MTHFR Gene C677T and A1298C heterozygous mutations in a young man with idiopathic hypoparathyroidism (digeorge syndrome).CONTEXT: antiphospholipid syndrome (APS, or Hughes' syndrome) is a systemic autoimmune disorder characterized by antiphospholipid antibody positivity, which may lead to arterial and/or venous thrombosis. hyperhomocysteinemia (HHcy), variously associated with 5,10-methylene tetrahydrofolate reductase (MTHFR) gene point mutations, is also implicated in thromboembolic events. The association of APS and HHcy has already been described but has never been reported in patients with digeorge syndrome (DGS), the most common contiguous-gene deletion syndrome (22q11.2) in humans, whose phenotype conversely includes bleeding disorders. DATA ACQUISITION: In this report, we present the case of a 19-yr-old patient with a past medical history of learning disability and obesity affected with idiopathic hypoparathyroidism, metabolic syndrome, and diffuse vasculitis disorders. He was referred to our endocrinology clinic for the management of severe hypocalcemia. At the time of presentation he had been taking antiepileptic drugs for 2 wk and displayed facial dysmorphism (short neck, micrognathia, a small mouth, hypoplastic nasal alae, eye hypertelorism, and low-set simple ears). DGS was suspected and confirmed by both fluorescence in situ hybridization analysis and single nucleotide polymorphism-array analysis, which revealed contiguous gene microdeletion of the chromosome 22q11.2 in the minimal DiGeorge critical region, specifically at the gene locus D22S75 (N25). CONCLUSIONS: APS, revealed by anti-beta-2-glycoprotein and anti-prothrombin antibodies positivity, and moderate HHcy related to heterozygous C677T and A1298C point mutations of the MTHFR gene were identified as a possible cause of thrombotic disorder responsible for the widespread presence of cutaneous and cerebral lesions.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
5/11. Oral findings in digeorge syndrome.An 8-year-old female with digeorge syndrome was referred for dental treatment. Previous medical examination had disclosed heart and aortic arch malformations, hypoparathyroidism and an impaired cellular immune response. At dental examination, hypertelorism, a short philtrum, low-set malformed ears, a cleft palate and severe enamel hypoplasia were noted. The chronological distribution of enamel defects corresponded to the patients' age at known episodes of profound hypocalcemia occurring during treatment with vitamin d. Branchial dysembryogenesis should be considered in any case with dental changes related to hypoparathyroidism.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
6/11. Successful restoration of immunity in the digeorge syndrome with fetal thymic epithelial transplant.A 13-month-old girl presented with right upper lobe pneumonia and hypocalcaemic seizures: investigations showed hypoparathyroidism and impaired cell-mediated immune responses. Other features of the digeorge syndrome included hypertelorism, short philtrum of the lip, right-sided aortic arch, and aberrant origin of the left subclavian artery. Successful restoration of the immunodeficiency was achieved by transplantation of fetal thymic epithelium.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
7/11. Microdeletion of chromosomal region 22q11 in digeorge syndrome: report of a case.This is a case of chromosome 22q11 deletion in a female Chinese infant with digeorge syndrome. Cardiac anomalies included a type B interrupted aortic arch from the descending aorta with an aberrant right subclavian artery, a large ventricular septal defect, a small atrial septal defect and a large patent ductus arteriosus. This patient was small for her age and showed symptoms of feeding difficulties, chronic diarrhea and facial dysmorphisms (frontal bossing, hypertelorism, posteriorly rotated ears, fish-like mouth and micrognathia). Chest film did not reveal a thymic shadow. Immunological studies showed a low T-cell ratio (20%). Laboratory tests revealed a borderline low serum calcium level. The karyotype, 46, XX, del(22) (q11.21-->q11.23), was observed by high-resolution banding techniques. Cardiac surgery was successfully performed at 1 month of age. Operative findings confirmed aplasia of the thymus and the above complex cardiac anomalies. To our knowledge, this is the first Taiwanese case of digeorge syndrome proven immunologically and cytogenetically.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
8/11. digeorge syndrome and partial monosomy 10p: case report and review.digeorge syndrome (DGS) is predominantly caused by partial monosomy 22q11, but a subset of patients with DGS show deletions of 10p or other chromosomal abnormalities. The authors describe a 20 months old girl with DGS and a monosomy 10p bringing the number of DGS patients with this chromosomal abnormality to nine. She has a monosomy 10p13-pter and a trisomy 10q26-qter due to a meiotic recombination of a maternal inversion (10) (p13q26). The proposita's phenotype demonstrates typical features of the del (10p) syndrome which include mental retardation, abnormally shaped skull, hypertelorism, low nasal bridge, micrognathia, dysmorphic low set ears, short neck, foot abnormalities, and cardiac defect. The diagnosis of DGS was made unequivocally within the first weeks of life because of the typical features-cardiac defect, hypoplastic thymus, T-cell defect, hypocalcemia, and hypoparathyroidism. The common DGS mutation-microdeletion 22q11-was excluded by FISH analysis, and the breakpoints on chromosome 10 were mapped between D10S189 and D10S191 on the short arm and proximal to D10S25 on the long arm.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
9/11. Unbalanced 15;22 translocation in a patient with manifestations of DiGeorge and velocardiofacial syndrome.We report on an 8-year-old girl with an unbalanced 15;22 translocation and manifestations of digeorge syndrome (DGS), velocardiofacial syndrome (VCFS), and other abnormalities. The main manifestations of our patient were feeding difficulties, respiratory infections, short stature, peculiar face with hypertelorism, prominent nose, abnormal ears, microstomia and crowded teeth, short broad neck and shield chest with pectus deformity and widely spaced nipples with abnormal fat distribution, heart defect, scoliosis, asymmetric limb development, abnormal hands and feet, and hyperchromic skin patches. Cytogenetic studies demonstrated a 45,XX,der(15)t(15;22)(p11.2;q11.2), -22 karyotype. fluorescence in situ hybridization (FISH) studies confirmed loss of the proximal DiGeorge chromosomal region (DGCR). This case adds to the diversity of clinical abnormalities caused by deletions within 22q11.2.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
10/11. digeorge syndrome with microdeletion of chromosome 22q11.2: report of one case.digeorge syndrome (DGS) is a congenital anomaly involving developmental defects of the third and fourth pharyngeal pouches. Thymic aplasia or hypoplasia, parathyroid aplasia or hypoplasia, cardiac malformations, and dysmorphic facies are characteristics features. We present a case which had thymic aplasia, hypocalcemia, facial dysmorphism (hypertelorism, low set ears, cleft of soft palate, fish-like mouth and micrognathia) and congenital heart disease (ventricular septal defect, perimembranous type). The T-cell immunologic functions as a percentage of T-cell and phytohemagglutinin stimulation test were within normal range matched with age. Molecular study showed microdeletion of chromosome 22q11.2 by genotype analysis, but chromosome study of high-resolution cytogenetic analysis by G-banding technique was normal. To our knowledge, about 90% of digeorge syndrome patients show chromosome abnormalities, most involving chromosome 22 (monosomy of 22q11.2). In the past, most cases were proven by high-resolution cytogenetic analysis or fluorescence in situ hybridization(FISH). We report a case of DGS in taiwan with microdeletion of chromosome 22q11.2 detected by genotype analysis.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
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