Bhaswati Ghoshal

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A 3 and half years old male child born by consanguineous marriage presented with white forelock and symmetric hypopigmented areas present since birth, similar to his mother and elder sister. Hepatomegaly was noticed at one year of age. Liver biopsy revealed enlarged pale hepatocytes distended with glycogen. Skin biopsy revealed absence of melanin pigment(More)
A bifid sternum is a rare congenital anomaly generally diagnosed as asymptomatic at birth. It is sometimes associated with other congenital anomalies. The sternal defects are best corrected surgically during the neonatal period within the first month of life. Sometimes the defect may be diagnosed only in adult life. We here report a case of bifid sternum(More)
Antley-Bixler syndrome (ABS) is rare form of craniosynostosis of both autosomal dominant and autosomal recessive inheritance. We are reporting a female term appropriate for gestational age newborn with clinical features of frontal bossing, brachycephaly, proptosis, synostosis of radioulnar joints, hemangioma over nose and philtrum, hydrocephalus suggestive(More)
We present the case of a boy with a clinical diagnosis of Goltz syndrome (focal dermal hypoplasia), a rare genodermatosis characterized by widespread dysplasia of mesodermal and ectodermal tissues. A 9-year-old male patient with Goltz syndrome presented with typical skin lesions along with progressive dimness of vision and mental retardation since birth. It(More)
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