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Q. Gurmeet Singh, Reena Sood
Department of Pediatrics and Department of Obstetrics and Gynaecology, Sh. Guru Ram Das Institute of Medical Sciences and Research, Amritsar, Punjab, India.


Address for Correspondence: Dr Gurmeet Singh, HL-102, Roop Nagar, Gate Hakima, Amritsar, Punjab -143006, India. Email: dr.gmsingh@gmail.com
A 3 years old girl presented with knock knees and polydactyly. She was first in birth order and single child born to non-consanguineous married parents and had normal milestones. She also had brittle nails. On examination, she had thin hair, slightly elongated face, serrated incisor margins, absent incisor teeth, pegged teeth and transposition of teeth apart from genu valgum and polydactyly. There was no organomegaly. X- ray wrist and hand showing postaxial polydactyly, polymetacarpalism and syncarpalism with shortening of middle phalanges. X-rays of lower limbs shows ischial spurs at acetabulum level, mesical angulation and shortening of tibia and fibula. X-ray chest showed borderline cardiomegaly with narrow chest and echocardiography revealed large atrial septal defect {ASD}.
What is the diagnosis_?