Issues in counseling for Down syndrome.

We studied the background information, concerns and specific queries of thirty-four families of children with Down syndrome. Majority of the parents were aware that their child has Down syndrome and has or will have mental retardation. However, most of the families were ignorant about the lack of curative treatment, chromosomal nature of the disorder and prenatal screening and testing options.

Hemihyperplasia syndromes.

OBJECTIVE: Hemihyperplasia is a heterogenous group of disorders characterized by asymmetric limb growth. There is considerable confusion regarding their classification and ascertainment into various syndromes. We tried to look into the various aspects of hemihyperplasia syndromes. METHODS: Records of 17 consecutive cases of hemihyperplasia were reviewed and were ascertained into various syndromes based on available literature and diagnostic criteria. RESULTS: Of the 17 cases with hemihyperplasia, 3 cases satisfied the diagnostic criteria for Proteus syndrome. One patient each was ascertained as Klippel Trenaunay Weber syndrome and Hemihyperplasia- Multiple lipomatosis. 9 cases were classified as isolated hemihyperplasia. We found two novel associations with hemihyperplasia; namely Ehlers-Danlos syndrome like skin changes and Poland anomaly on the affected side. The remaining 3 cases had miscellaneous disorders with limb asymmetry, namely Neurofibromatosis Type I in 2 cases and Olliers disease in one case. CONCLUSION: Efforts to diagnose syndromes of hemihyperplasia help in genetic counseling.

Diabetes mellitus in an infant.

Onset of diabetes in the first year of life is uncommon, most cases being those of transient diabetes of the newborn. We report the case of a child who presented at 10 weeks of age with diabetic keto-acidosis, and continues to be insulin dependent at 18 months.