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1.
JCPSP-Journal of the College of Physicians and Surgeons Pakistan. 2011; 21 (7): 431-433
in English | IMEMR | ID: emr-129790

ABSTRACT

Roberts syndrome Is a genetically determined rare birth defect causing, skeletal deformities, particularly symmetrical limb reduction and craniofacial anomalies. For any child with limb and craniofacial bony malformations, this syndrome should be considered in the differentials. Although this syndrome represents only a small proportion of the total number of individuals with limb deficiency, it is important to be identified in order to give accurate genetic counselling including recurrence risk in siblings and possible prenatal diagnosis. This is the case report of a 22 days old male infant who presented with defective development of all four extremities and craniofacial abnormalities. The overall clinical and radiological features were suggestive of Roberts syndrome


Subject(s)
Humans , Male , Infant, Newborn , Craniofacial Abnormalities/genetics , Hypertelorism/genetics , Acetyltransferases/genetics , Chromosomal Proteins, Non-Histone/genetics , DNA/genetics , Diagnosis, Differential , Mutation , Parents , Prognosis , Ectromelia/diagnosis
2.
Annals of King Edward Medical College. 2004; 10 (4): 384-386
in English | IMEMR | ID: emr-175452

ABSTRACT

Accidental, suicidal or homicidal ingestion of various substances is quite common in patients who often present as [Coma of unknown origin]. The pattern of drug used in our society differs from the West. The knowledge of more popular substances in local community can be helpful in early diagnosis and management of these patients. In an ICU setup we studied the etiological distribution of coma resulting from poisoning and its outcome. Poisoning was the most frequently encountered cause [70 cases] comprising 19.18% of all cases of coma. There were a total of 218 patients with metabolic causes of coma, and out of these poisonings contributed the largest chunk [making up 32.11% of metabolic comas]. Taken as a whole, poisoning has a relatively favourable outcome [25.71% mortality]. The leading cause of poisoning encountered in our study was benzodiazepine poisoning i.e. 20 patients [28.57%] and all recovered. The second largest group was wheat preservative poisoning [15 patients, 21.42%], 07 patients died, with a mortality of 46.67%. Seven patients with narcotic overdose were all discharged, while one out of 04 patients of organophosphate poisoning [5.72%] and 05 out of 08 copper sulphate poisoning patients [11.43%] could not survive. In 07 patients, the agent could not be identified. Most poisonings encountered in our study were nonaccidental, and many were [27 patients, 38.57%] those patients who were victims of robbers. The favourite agent of these people was benzodiazepines [15 cases], Dhatura [4 patients], narcotic drugs [1 patient] and an unknown agent in 07 cases. Suicidal poisoning was the largest group with 31 cases [44.28%]. We conclude that poisoning is the single largest cause of coma at our hospital emphasizes the need for poison information centres in our country, on the pattern prevalent in the West

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