1/36. Isochromosome consisting of terminal short arm and proximal long arm X in a girl with short stature.A 16-year-old girl with short stature, short neck, shield chest, and cubitus valgus was studied. FISH analyses of her structurally altered x chromosome showed a der(X)- (wcpX ,TelXp/Yp ,SHOX ,STS ,KAL-, 37A12-,DXZ1 ,XIST ,97L7 ,300O13-,404F- 18-,417G15-,404F18-,140A-,TelXq/Yq-). These results, together with the high-resolution banding analysis, indicated her karyotype to be 46,X,der(X)(Xpter-->Xp22.3::Xq22.3--> cen-->Xq22.3::Xp22.3-->Xpter). The der(X) was an isochromosome, consisting of duplicated terminal short arms and duplicated proximal long arms. This in turn suggested that the chromosome was formed through pericentric inversion of an x chromosome, followed by isochromosome formation through sister chromatid exchange at Xp, close to the centromere. Replication R-banding analysis showed that the abnormal x chromosome was late replicating. Analysis of digestion patterns with a methylation-sensitive restriction endonuclease of the phosphoglycerate kinase 1 gene, located in Xq13.3, indicated that its inactivation patterns were completely skewed.- - - - - - - - - - ranking = 1keywords = chest (Clic here for more details about this article) |
2/36. prenatal diagnosis of kyphomelic dysplasia.Kyphomelic dysplasia (KD) is a rare autosomal recessive entity characterized by disproportionate dwarfism with shortening and bowing of the limbs, narrow chest, 11 ribs and metaphyseal flaring. Mental development is generally normal. We report the in utero ultrasound appearances and post-mortem radiographic findings of a 22-week-old male fetus suggestive of KD. A review of 19 previously reported patients with KD is also presented.- - - - - - - - - - ranking = 1keywords = chest (Clic here for more details about this article) |
3/36. Sponastrime dysplasia with abnormal urinary glycosaminoglycans and growth hormone unresponsiveness.Sponastrime dysplasia is a rare skeletal dysplasia characterized by severe short stature, scoliosis, a saddle nose, frontal bossing, and increased upper/lower segment ratio. Etiology of this condition is unknown. Radiological findings include a concavity in the posterior two thirds of lumbar vertebral bodies, platyspondyly, thoracolumbar scoliosis, marginal irregularity and striations of metaphyses, and delayed bone age. We report a patient with findings of sponastrime dysplasia and evaluation of urinary glycosaminoglycans with the presence of dermatan sulfate, heparan sulfate, chondroitin 4 sulfate, and chondroitin 6 sulfate. This suggests the etiology of this disorder may be abnormal cartilage metabolism.- - - - - - - - - - ranking = 2.8977459890014keywords = upper (Clic here for more details about this article) |
4/36. Biochemical abnormality associated with smith-lemli-opitz syndrome in an infant with features of Rutledge multiple congenital anomaly syndrome confirms that the latter is a variant of the former.We describe a female infant with morphologic features of Rutledge multiple-congenital-anomaly syndrome (RMCAS) and biochemical features of smith-lemli-opitz syndrome (SLOS). She had microcephaly with hypoplastic cerebral frontal lobes and cerebellum, agenesis of the splenium of corpus callosum, abnormal facies including hypertelorism with bilateral inner epicanthal folds, a broad nasal bridge with slightly anteverted nares and patent choanae, low set ears and complex conchal formation, high-arched palate and thick maxillary alveolar ridges, and micrognathia. Her chest was broad, genitalia were ambiguous, and uterus was bicornuate. Skeletal abnormalities included a hypoplastic appendicular skeleton, post-axial hexadactyly of the right hand and the left foot, syndactyly of bilateral 2nd-3rd toes and left 5th-6th toes, right talipes varus and left talipes valgus, and fused L5-S1 vertebrae. Congenital heart disease consisted of hypoplastic left heart, coronary sinus agenesis, ostium secundum and ostium primum defects, and a thickened septum primum. The lungs were hypolobated and the kidneys manifested oligopapillary hypoplasia. Total colonic hirschsprung disease was noted microscopically. Analysis of liver tissue taken at postmortem examination revealed the ratio of 7-dehydrocholesterol and cholesterol to be 143 (expected, 0.28 /- 0.28). Although initially described as a distinct syndrome, RMCAS was merged with the severe form of SLOS, because of significantly overlapping features [Online Mendelian Inheritance in Man (OMIM) #268670]. The biochemical data showing an excess of 7-dehydrocholesterol and low cholesterol in the liver tissue of our case supports this viewpoint.- - - - - - - - - - ranking = 1keywords = chest (Clic here for more details about this article) |
5/36. Subtotal splenectomy for treatment of retarted growth and sexual development associated with splenomegaly.This communication presents a new alternative for the treatment of retarded growth and sexual development associated with spleno- megaly: subtotal splenectomy, preserving the upper splenic pole supplied only by the splenogastric vessels, to avoid adverse effects of total splenectomy. We performed this procedure associated with central splenorenal shunt or portal-variceal disconnection in 3 teenagers with portal hypertension due to Schistosomia-sis Mansoni, complicated by variceal bleedings. All of them presented retarded growth and sexual development. All patients had uneventful postoperative follow-up, and normal growth and sexual development after the surgery. Subtotal splenectomy should be considered for treatment dwarfism associated with splenomegaly.- - - - - - - - - - ranking = 2.8977459890014keywords = upper (Clic here for more details about this article) |
6/36. Progressive multilayered banded skin in Winchester syndrome.Winchester syndrome is a rare genetic disorder, one of the inherited osteolysis disorders which are a group of diseases characterized by destruction and resorption of affected bones with consequent skeletal deformities and functional impairment. The syndrome is characterized by dissolution of carpal and tarsal bones with generalized osteoporosis, progressive joint contractures, short stature, peripheral corneal opacities, and coarse facial features, though there is variability within the clinical features. Phenotypic heterogeneity of cutaneous features are also reported to date of diffusely thickened leathery skin, hypertrichosis, patches of hyperpigmented, hypertrichotic leathery skin in annular or linear distribution, widespread acne, subcutaneous nodules, and gingival hypertrophy. We describe widespread progressive multilayered symmetrical restrictive banding of the skin developing in a woman with Winchester syndrome during her mid-twenties.- - - - - - - - - - ranking = 6keywords = chest (Clic here for more details about this article) |
7/36. Clinical variability in KBG syndrome: report of three unrelated families.The KBG syndrome is characterized by short stature, macrodontia, a specific combination of minor anomalies, developmental delay, and/or mental retardation. We reported on four patients from three unrelated families. The most frequent clinical findings were: atypical face, long/flat philtrum, thin upper lip, macrodontia, dental malposition, enamel hypoplasia, and cleft teeth. Skeletal anomalies such as cervical ribs and vertebral abnormalities were also noted. hand anomalies were observed in three patients. Mental retardation and developmental delay were present in three of the four patients. There is wide clinical variability in the expression of this syndrome. The males are usually more severely affected then the females, suggesting possible X-linked inheritance in some cases.- - - - - - - - - - ranking = 2.8977459890014keywords = upper (Clic here for more details about this article) |
8/36. campomelic dysplasia without campomelia.We present a male infant with campomelic dysplasia syndrome (McKusick 21197) in whom no bowing of the tibiae or femora was seen, but widely set nipples and long upper segment of the arm were observed. In accordance with two previous case reports, the present findings suggest that a campomelic dysplasia variant without campomelia may exist.- - - - - - - - - - ranking = 2.8977459890014keywords = upper (Clic here for more details about this article) |
9/36. dwarfism, rhizomelic limb shortness, and abnormal face: new short stature syndrome sharing some manifestations with Robinow syndrome.We describe a child with short stature of prenatal onset, rhizomelic limb shortness affecting the upper limbs particularly, and an unusual face. She had frontal balding, mid-face hypoplasia, a small nose, macrostomia with down-turned corners of the mouth, gingival hypertrophy, and hypoplasia or absence of the clitoris. There was no gross modelling defect of the skeleton and the vertebral column was normal. Some of these manifestations overlap with those of Robinow syndrome.- - - - - - - - - - ranking = 2.8977459890014keywords = upper (Clic here for more details about this article) |
10/36. Tracheobronchiomegaly. The Mounier-Kuhn syndrome in a patient with the Kenny-Caffey syndrome.A 36-year-old woman with features of both the Mounier-Kuhn syndrome and the Kenny-Caffey syndrome is described. To our knowledge, this is the first reported case of these syndromes occurring together. Three-dimensional computed tomographic reconstruction of the upper airway revealed marked dilatation of the trachea and main-stem bronchi and several large diverticulae of the trachea.- - - - - - - - - - ranking = 2.8977459890014keywords = upper (Clic here for more details about this article) |
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