Biomedical subjects
Publications and source records attributed to Hemant V Kulkarni.
A 3-year-old girl with Rett syndrome is reported in this case report. The aim of this report is to highlight the clinical features of this rare neurodegenerative disorder that mainly affects young girls. A brief review of literature of this disorder is included.
Bilateral anotia or microtia is known to be associated with multiple order malformations. The authors report a young infant who presented with failure to thrive and recurrent respiratory tract infections. The patient had bilaterally absent pinnae; instead small skin tags were present. He also had asymmetric crying facies and clinical evidence of hypothyroidism in the form of hoarse voice, constipation and generalized hypotonia. Thyroid function tests confirmed the diagnosis of hypothyroidism.
The Coffin-Lowry syndrome is an established syndrome of severe mental and growth retardation, characteristic dysmorphic features and skeletal anomalies. The authors report a one and half year old boy with classical features of this syndrome. Early recognition of this condition is important for genetic counseling and prevention of progressive skeletal deformities.