Yogesh Kumar Gupta

Manipal University, Udipi, State of Karnataka, India

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Publications (2)2.3 Total impact

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    ABSTRACT: Finlay-Marks syndrome (scalp-ear-nipple syndrome), is the infrequently reported association of scalp aplasia, malformed ears, and breast abnormalities varying from small nipples to complete absence of breasts. Other manifestations are variable and some of them resemble ectodermal dysplasia and include dystrophy of nails and teeth, sparse hair, decreased sweating, and cutaneous syndactyly of digits. Renal anomalies have been reported in some patients leading to hypertension and renal insufficiency. Most reported patients have been sporadic but familial occurrences following an autosomal dominant pattern of inheritance have been reported. We report on two affected siblings, of whom one died in the neonatal period due to renal failure. Two affected siblings born to non-affected parents may suggest an autosomal recessive inheritance.
    American Journal of Medical Genetics Part A 05/2012; 158A(7):1696-701. · 2.30 Impact Factor
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    ABSTRACT: A 4-month-old male baby who presented in a moribund condition with seizures was found to have hepatomegaly, hypoglycemia and milky serum. Serum triglycerides were markedly elevated (3 168 mg/dL) with cholesterol being 257 mg/dL and high density lipoprotein levels were low (19 mg/dL). The possibility of glycogen storage disease type I was considered in the diagnosis. Infants with glycogen storage disease type I may present like sepsis. The association of hepatomegaly, hypoglycemia and abnormal lipid profile stated above should alert the physician to consider glycogen storage disease type I in the diagnosis.
    Asian Pacific Journal of Tropical Biomedicine 04/2012; 2(4):331-2.

Publication Stats

1 Citation
2.30 Total Impact Points

Institutions

  • 2012
    • Manipal University
      • Department of Paediatrics
      Udipi, State of Karnataka, India