1/17. noonan syndrome presented with cystic hygroma and chylothorax: case report.A cystic hygroma was found in a full-term (39 week-old) male newborn delivered by cesarian section. polyhydramnios was diagnosed by sonography at 21 weeks of gestation. Clinical manifestations at birth, such as respiratory distress, tachypnea and chylothorax were successfully relieved by the insertion of chest tube and medical therapy. Other conditions, which included mild hydronephrosis of left kidney, thickening of aortic and pulmonary valves with mild mitral and tricuspid valves regurgitation, subsided within six months. The cystic hygroma regressed to a webbed neck. In general, the features and clinical manifestations of the present case resembled the criteria of noonan syndrome including various congenital heart defects; webbed neck; chest deformity; a characteristic facial appearance comprising of a broad forehead, ocular hypertelorism, antimongoloid slant of palpebral fissures, low set ears; and bilateral undescended testis etc., suggested by Noonan and other subsequent authors. The outcome of this infant was satisfactory following medical and surgical therapy (chest tube, orchiopexy) and a special dietary regimen.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
2/17. PTPN11 mutations in leopard syndrome.leopard syndrome is an autosomal dominant disorder with multiple lentigines, congenital cardiac abnormalities, ocular hypertelorism, and retardation of growth. deafness and genital abnormalities are less frequently found. We report a father and daughter and a third, unrelated patient with leopard syndrome. Recently, missense mutations in the PTPN11 gene located in 12q24 were found to cause noonan syndrome. All three cases of leopard syndrome reported here have a Y279C mutation in the PTPN11 gene. We hypothesise that some PTPN11 mutations are associated with the typical noonan syndrome phenotype and that other mutations, such as the Y279C mutation reported here, are associated with both the noonan syndrome phenotype and with skin pigmentation anomalies, such as multiple lentigines or cafe au lait spots.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
3/17. Small terminal 10q26 deletion in a male patient with Noonan-like stigmata: diagnosis by cytogenetic and FISH analysis.A male patient is reported with terminal 10q26 deletion, developmental retardation, special behaviour, and multiple clinical anomalies including hypotonia, short stature of postnatal onset, short webbed neck, craniofacial dysmorphism, pectus excavatum with widely spaced small nipples, cryptorchidism with scrotal hypoplasia, limb and musculoskeletal anomalies. The facial dysmorphism mainly consisted of trigonocephaly, a long, triangular and asymmetrical face, hypertelorism with pseudoepicanthus, broad nasal bridge, high-arched palate, retrognathia, low-set dysplastic auricles and, on ophthalmologic examination, strabismus, astigmatism and myopia. Some of these clinical stigmata were suggesting the diagnosis of noonan syndrome. The extremities showed special features including shortening of proximal limbs, brachydactyly with syndactyly of toes II-III and left fingers III-IV, hypoplastic toenails and joint abnormalities. A diastasis of abdominal muscles was noted and, on x-rays a thoracic scoliosis and bilateral coxa valga were evidenced. Analyses of G- and T-banded chromosomes complemented by FISH analyses using different subtelomere probes detected a terminal 10q26 deletion. Subsequent FISH studies using different probes of the 10q26 region were performed in an attempt to closely define the breakpoint and the extent of the deletion and, thereby, to allow karyotype/phenotype comparison between this patient and a previously reported case with an apparently similar 10q26 deletion.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
4/17. Lymphstasis in a boy with noonan syndrome: implication for the development of skeletal features.We report on a Japanese boy with noonan syndrome who had short stature, bilateral cryptorchidism, poor pubertal development, mild mental retardation, complex cardiac lesions consisting of hypertrophic cardiomyopathy, mitral valve stenosis and insufficiency, subvalvular aortic stenosis, and single coronary artery, and various dysmorphic features including hypertelorism, epicanthic folds, low set malrotated ears, high arched palate, micrognathia, webbed neck, low posterior hairline, shield chest, pectus excavatum, cubitus valgus, borderline short metatarsals, lymphedema, redundant skin, and nail dysplasia. Because of marked lymphedema in the bilateral lower legs, lymphatic scintigraphy was carried out at 13.3 years of age, indicating extreme lymphstasis in the lower extremities, severe lymphstasis in the forearm, the elbow, and the axillary regions, moderate lymphstasis around the ascending aorta, and mild lymphstasis in the bilateral lungs. The results, in conjunction with those suggested in turner syndrome, imply that lymphatic hypoplasia/dysplasia and resultant distended lymphatics and lymphedema are relevant to the development of not only soft tissue and visceral anomalies but also skeletal anomalies in noonan syndrome.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
5/17. Clinical variability in a noonan syndrome family with a new PTPN11 gene mutation.noonan syndrome (NS) is an autosomal dominant disorder comprising short stature, facial dysmorphism, short and/or webbed neck, heart defects, and cryptorchidism in males. The gene responsible for the disorder (PTPN11) was recently identified, and explains 30-50% of the cases clinically diagnosed as NS. Cardiofaciocutaneous (CFC) syndrome, a similar but distinct entity, is characterized by relative macrocephaly, characteristic facial appearance, ectodermal abnormalities (sparse and friable hair, sparse eyebrows, hyperkeratotic skin), congenital heart defects, and growth and mental retardation. We describe on a young woman who presents clinical features of NS (short stature, triangular facies, with downslanting palpebral fissures and apparent hypertelorism, webbed neck, pulmonary stenosis, bleeding diathesis, prominent corneal nerves), but with a more prominent ectodermal involvement (sparse and very coarse hair, sparse eyebrows and eyelashes) and developmental delay/mental retardation, which are characteristic of CFC patients. Sequencing of the PTPN11 gene showed a T411M substitution, not previously described in patients with NS. The same mutation was found in her mother and older sister, not initially considered to be affected by NS, but with very subtle clinical findings compatible with this diagnosis. Molecular dynamic studies indicate that this new mutation, similar to other previously described mutations, favors a more active protein conformation. However, the main disruptive effect is not directly in the catalytic domain, suggesting that the location of this mutation could make the protein more susceptible to gene-gene or gene-environment interactions. Atypical cases of NS should be screened for mutations in the PTPN11 gene and in the case of a positive result, first-degree relatives should also be tested for the specific mutation.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
6/17. Myocardial dysgenesis with persistent sinusoids in a neonate with Noonan's phenotype.Structural cardiac anomalies indicative of primary myocardial maldevelopment are reported in a newborn girl with congenital heart block. The cardiac findings included disordered trabeculation of both ventricles with persistent intramyocardial sinusoids, hypoplastic papillary muscles, and dysplastic atrioventricular valves with partial downward displacement of the septal leaflet of the tricuspid valve. dilatation of the ascending aorta and craniofacial dysmorphism including webbed neck, hypertelorism, and low-set ears raise the possibility of noonan syndrome.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
7/17. genetic heterogeneity in leopard syndrome: two families with no mutations in PTPN11.leopard syndrome (lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness) is an autosomal dominant condition. The main clinical features include multiple lentigines, cardiovascular defects, and facial anomalies, some of which are shared with noonan syndrome (NS). Recent reports have shown that leopard syndrome can be caused by mutations in PTPN11, the gene in which mutations can produce NS. Here we report the findings of mutation screening and linkage analysis of PTPN11 in three families with leopard syndrome. We identified a novel mutation in one family. The mutation (1529A>C) substitutes proline for glutamine at amino acid 510 (Gln510Pro). No variations in sequence were observed in the other two families, and negative LOD scores excluded linkage to the PTPN11 locus, showing that leopard syndrome is genetically heterogeneous.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
8/17. New syndrome: mother and son with hypertelorism, downslanting palpebral fissures, malar hypoplasia, and apparently low-set ears associated with joint and scrotal anomalies.We report on a mother and son with a similar syndrome of hypertelorism and telecanthus, epicanthal folds, downslanting palpebral fissures, ptosis, broad nasal bridge, malar hypoplasia, thin upper lip, smooth philtrum, and apparently low-set prominent ears. The son also has a hypoplastic shawl scrotum, cryptorchidism, and genu valgum. His language development was delayed at 18 months, but subsequently improved and was normal at age 3. The mother has the additional findings of marked cubitus valgus, hyper-extensible joints, dull normal intelligence and a bleeding diathesis. This pattern of multiple congenital anomalies may represent a new syndrome.- - - - - - - - - - ranking = 5keywords = hypertelorism (Clic here for more details about this article) |
9/17. Noonan-like/multiple giant cell lesion syndrome.A patient with the Noonan-like/multiple giant cell lesion syndrome is reported and the findings in 14 cases are reviewed. Impressive manifestations include short stature, low normal intelligence or developmental delay, ocular hypertelorism, prominent posteriorly angulated ears, giant cell lesions of bones, joints, and/or soft tissues, pectus excavatum, and pulmonic stenosis. It has been difficult to delineate the syndrome because problems in identifying the condition have resulted from incomplete or truncate ascertainment by various medical specialists.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
10/17. Noonan's syndrome with extensive verrucae.We report the case of a patient with multiple findings characteristic of Noonan's syndrome, including a severe lymphedema present since early infancy, hypertelorism, low-set and prominent ears, broad facies, low posterior hairline, high arched palate, broad short neck, slightly short stature, and moderate dental malocclusion. In addition, extensive verrucae planae, verrucae vulgares, and condylomata acuminata occurred and were refractory to conventional therapy. To our knowledge, this is the first report of an association of Noonan's syndrome with extensive verrucae. We speculate that it is related to immunodeficiency as a consequence of loss of immunoglobulins and lymphocytes from intestinal lymphangiectasia. Cutaneous findings and other physical anomalies reported in patients with Noonan's syndrome are reviewed.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
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