An eighteen month-old infant with Cornelia de Lange syndrome
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Cornelia de Lange syndrome is a rare syndrome with diagnostic distinctive facial features, limb anomalies and growth retardation that we should attend it in perinatal diagnosis. An 18 month-old female infant was born at Mehr hospital with multiple congenital anomalies and seizure. She was the first baby of a nonconsanguineous marriage. She was born preterm(30 weeks gestation age), by normal vaginal delivery resultant in vitro fertilities (IVF). She had arched like confluent eyebrows and well-defined, long curly eyelashes, low posterior hairline, short neck, depressed nasal bridge, down-turned angles of the mouth and thin lips, cleft palate, microcephaly, hands deformity include clinodactyly and brachydactyly of left fifth fingers with simian creases, short leg, hypotonicity, and small labia majora.There were another signs and symptoms include: Renal anomaly (cystic and horseshoe kidney), systolic murmur (2/6), Eye malformation, micriophtalmia and visual disorders, ear deformity and abnormal Auditory Brainstem Response (ABR)...

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