A new syndrome with overlapping features of Townes-brocks syndrome and single median maxillary central incisor syndrome
A 14-month-old male child presented with acute diarrhea for 3 days. The child was born as second child to non-consanguineously wed parents by spontaneous vaginal delivery following an uneventful antenatal period with a birth weight of 2.5 kg. He was noted to have imperforate anus at birth for which a corrective surgery was done in the first week of life. He was exclusively breast-fed for 6 months and immunized for age. Child was noted to have mild global developmental delay. The Social Quotient according to Vineland social maturity scale (VSMS) was 60%. Physical examination revealed dysmorphic facial features in the form of microcephaly, dysplastic ears [], hypoteleroism, absence of superior labial frenulum, and single median maxillary central incisor []. The child also had bilateral pre-axial polydactyly. Anthropometry revealed height, weight, and head circumference less than 3rd centile for age and sex. Systemic examinations were within normal limits. In view of dysmorphic features, the child was investigated for other associated anomalies. Screening audiometry was found to be normal. Ultrasound abdomen revealed numerous cysts in both renal cortices measuring 2 to 5 mm in size; however, renal function tests were normal. Computerized tomography of brain revealed no abnormalities. Electrocardiogram and Echocardiography were normal. Chest and skeletal radiographs were ordered to rule out any bony abnormalities but found to be normal. There were no similar complaints in the family and examination of the elder sibling and parents were normal including ultrasonography of abdomen. Genetic study could not be done due to limitation of resources and expertise in this part of the world.