Uncommon recognizable malformations at a secondary level hospital
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《美国医学杂志》
Department of Pediatrics, Shanti-Mangalick Hospital, Fatehabad Road, Agra (UP), India
Accurate diagnosis of a specific syndrome among the 0.7 % of babies born with multiple malformations is a necessary prerequisite to provide a prognosis and plan of management for the affected infant/child, as well as genetic counseling for the parents [1]. Most syndromes reported from India are from tertiary level centers and medical colleges. The skills and experience of practicing pediatricians for the identification of syndromes and malformations are far from satisfactory.
The author wishes to share his experience of 8 children identified with uncommon recognizable malformations over a period of 6 months at a secondary level hospital. The communication gains significance as most of these children had already consulted pediatricians/physicians but were not explained about the nature of the disease, prognosis or management options available. Clinical profile and diagnosis of these children are as shown in table1.
It was surprising to note that the nature of the disease, likely complications and investigations were not suggested even to some children with relatively common syndromes (Down's syndrome). Most of the children carried with them slips of the physicians without diagnosis or any attempt to enlist the features of the syndrome. These observations made over a short duration make one to conclude and believe that a large number of similar syndromes remain unidentified due to an improper dysmorphology approach and awareness of practicing pediatricians who form the bulk of child care providers in the country.
Acknowledgement
The author wishes to express his thanks to Dr AK Singh, Administrator of the hospital for giving permission for publishing the findings. Author also thanks the parents and relatives of children who allowed him to take the clinical photographs.
Competing interests: None stated
References
1. Jones KL. Smith's Recognizable patterns of human malformations . 5th edn. Philadelphia; WB Saunders Company, 1997.(Garg Pankaj)
Accurate diagnosis of a specific syndrome among the 0.7 % of babies born with multiple malformations is a necessary prerequisite to provide a prognosis and plan of management for the affected infant/child, as well as genetic counseling for the parents [1]. Most syndromes reported from India are from tertiary level centers and medical colleges. The skills and experience of practicing pediatricians for the identification of syndromes and malformations are far from satisfactory.
The author wishes to share his experience of 8 children identified with uncommon recognizable malformations over a period of 6 months at a secondary level hospital. The communication gains significance as most of these children had already consulted pediatricians/physicians but were not explained about the nature of the disease, prognosis or management options available. Clinical profile and diagnosis of these children are as shown in table1.
It was surprising to note that the nature of the disease, likely complications and investigations were not suggested even to some children with relatively common syndromes (Down's syndrome). Most of the children carried with them slips of the physicians without diagnosis or any attempt to enlist the features of the syndrome. These observations made over a short duration make one to conclude and believe that a large number of similar syndromes remain unidentified due to an improper dysmorphology approach and awareness of practicing pediatricians who form the bulk of child care providers in the country.
Acknowledgement
The author wishes to express his thanks to Dr AK Singh, Administrator of the hospital for giving permission for publishing the findings. Author also thanks the parents and relatives of children who allowed him to take the clinical photographs.
Competing interests: None stated
References
1. Jones KL. Smith's Recognizable patterns of human malformations . 5th edn. Philadelphia; WB Saunders Company, 1997.(Garg Pankaj)