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KMID : 0361720050160010049
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Korean Journal of perinatology
2005 Volume.16 No. 1 p.49 ~ p.53
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A Case of Genitopatellar Syndrome.
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Kim Hee-Jung
Cha Jung-Hwa
Lee Soo-Jeong
Park Eun-Ae
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Abstract
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We report a female with genitopatellar syndrome, a recently identified arthrogryposis syndrome. Genitopatellar syndrome is a suggested autosomal recessive disorder, which is characterized by absent patellae, genital and renal anomalies, dysmorphic features, bilateral hypoplasia of the ischia and corpus callosum dysgenesis, mental retardation, micrognathia and swallowing difficulty. External genital anomaly consists of scrotal hyperplasia, clitoris hypertrophy or small clitoris. Possible renal anomalies are multicystic kidneys or hydronephrosis. Dysmorphic features include a coarse face and a broad nose with a high nasal bridge. In our case, the patient has an absent patellae, hydronephrosis, clitoris hypertrophy, dysmorphic features, club foot, corpus callosum dysgenesis, micrognathia and swallowing difficulty.
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KEYWORD
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Genitopatellar Syndrome, Absent patellae, Renal anomalies, Genital anomalies, Corpus callosum dysgnesis
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