Summary
We reported on a Japanese boy similar to the patients previously reported by Malpuechet al. (1983) with mental and growth retardation, hypertelorism, bilateral cleft lips, cleft palate, and urogenital anomalies. He also had undescribed cardiac defects. This is probably the second case report of Malpuech facial clefting syndrome.
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References
Malpuech G, Demeocq F, Palcoux JB, Vanilieferinghen P (1983): A previously undescribed autosomal recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome with growth failure, lip/palate cleft(s), and urogenital anomalies. Am J Med Genet16: 475–480
Naritomi K (1995): University of the Ryukyus-Database for Malformation Syndromes. Ver. 3.1-Pictures. Department of Pediatrics, University of the Ryukyus, Nishihara
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Chinen, Y., Naritomi, K. Malpuech facial clefting syndrome in a Japanese boy with cardiac defects. Jap J Human Genet 40, 335–338 (1995). https://doi.org/10.1007/BF01900601
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DOI: https://doi.org/10.1007/BF01900601
