Clinical variability in acro-cardio-facial-syndrome
Ariana Kariminejad1, Bita Bozorgmehr, Mohammad Ali Sedighi Gilani
1Kariminejad & Najmabadi Genetic and Pathology Center, Tehran, Iran. arianakariminejad@yahoo.com
Abstract:
We report on a 25-year-old man with ectrodactyly and genital anomalies whose parents are first cousins. Their second child died 4 days after birth with severe limb defects and imperforate anus. Our patient may represent clinical variability of the acro-cardio-facial syndrome.
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