Ellis-van Creveld syndrome: A rare clinical entity
A 10-year-old girl of Indian origin reported to our institution with the chief complaint of malformed teeth in front region of upper and lower jaws. The patient was the first child of non-consanguineous and normally developed parents. Her birth was at full term normal delivery with birth weight around 2.5 kg. There was no history of presence of natal or neonatal teeth. She had a younger brother with no congenital abnormality. Medical history revealed that she had some atrial septal defect and was undergoing treatment for that problem. Her psychosomatic and mental developmental were within normal limits.\nOn general physical examination, the patient had short stature with 110 cm height. Examination of the hands and feet revealed bilateral postaxial polydactyly [Figures and ]. In right foot, polydactyly with syndactyly was present. Lower limbs were deformed with outward bending of knee (genu valgum) []. Nails were hypoplastic and hairs were thin and sparse.\nIntra-oral examination along with panoramic radiography revealed multiple missing teeth (12, 22, 31, 32, 41, 42) in mandibular and maxillary anterior region and a retained mandibular deciduous incisor (81) [Figures and ]. Maxillary central incisors (12, 21) were malformed and 21 had a deep carious labial fissure. Multiple frenulum and labiogingival frenum hypertrophy were present in maxillary and mandibular anterior region.\nRoutine blood investigations like hemoglobin (11.5 g%), total leukocyte count (7000/cu mm), Blood urea (13.0 mg%), serum creatinine (0.6 mg%), serum calcium (9.9 mg%), serum protein (6.4 g%), serum albumin (3.8 mg%), and serum globulin (2.6 g%) were within normal limits with exception of slightly elevated serum alkaline phosphatase (135.7 I.U/L).