Musculocontractural type of Ehlers-Danlos syndrome (MC-EDS) is a recently recognised connective tissue disorder. MC-EDS is caused by homozygous or compound heterozygous mutation in the carbohydrate sulfotransferase 14 (CHST14) gene on chromosome 15q15. Herein, we report a case of a 3-year-old boy with MC-EDS in whom a novel mutation in the CHST14 gene was discovered. Besides being the second report of this rare disorder from India, the child till 3 years has not had any bleeding tendency as described in the earlier reports of this disorder.
m).Of the 29 lupus patients,13 charts were retrieved. The mean age at diagnosis was 13.3 years(SD 3.4) from 6-18 years old. Oedema(53.8%), fever(46.1%), abdominal pain (38.4%) and easy fatigability (30.7%) were the most common features at disease onset while renal involvement (84.6%), malar rash (53.8%) and oral ulceration(46.1%) were common at the time of diagnosis. All of 9 patients with ANA titers were positive. Anti-dsDNA antibodies were high in 3 patients. Low complement values were seen in 83.3%. The follow-up period ranged from 0.2-2y with a mean duration of 1.2±0.6 y.Four went into remission but 3 patients died, 3 patients transitioned to adult section and 3 were lost to follow-up. Conclusions Oedema and renal involvement were the most common feature at the onset and at the the time of the disease, respectively. All male lupus patients had positive ANA and low C3 results. Causes of death were:active disease, sepsis and DIC. Early recognition and diagnosis will lead to prompt institution of treatment that will benefit lupus patients.
Trisomy 18 or Edward syndrome is a chromosomal disorder due to the presence of an extra chromosome 18. We describe the phenotype of five fetuses at different gestational ages, each highlighting a different aspect of trisomy 18. The clinical spectrum included increased nuchal translucency, fetal hydrops, congenital malformations of the central nervous system, congenital heart disease, radial ray defects, and characteristic facial gestalt. We made a comparison of prenatal ultrasonography and the autopsy findings. The fetal autopsy defined the craniofacial and digit anomalies better compared with sonography. The facial features of tall forehead, hypoplastic nares, microstomia, micrognathia, low set abnormal ears along with clenched hands, and short hallux are typical for trisomy 18 and help in planning the targeted cytogenetic or molecular tests. The diagnosis was established by either fluorescence in situ hybridization or quantitative fluorescent polymerase chain reaction or chromosomal microarray in the patients. This communication emphasizes the importance of detailed assessment for craniofacial and limb anomalies on prenatal ultrasonography which can prompt an early evaluation for trisomy 18.
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