Literature DB >> 8851768

Malpuech facial clefting syndrome in a Japanese boy with cardiac defects.

Y Chinen1, K Naritomi.   

Abstract

We reported on a Japanese boy similar to the patients previously reported by Malpuech et 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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Year:  1995        PMID: 8851768     DOI: 10.1007/BF01900601

Source DB:  PubMed          Journal:  Jpn J Hum Genet        ISSN: 0916-8478


  1 in total

1.  MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes.

Authors:  Asli Sirmaci; Tom Walsh; Hatice Akay; Michail Spiliopoulos; Yıldırım Bayezit Sakalar; Aylin Hasanefendioğlu-Bayrak; Duygu Duman; Amjad Farooq; Mary-Claire King; Mustafa Tekin
Journal:  Am J Hum Genet       Date:  2010-10-28       Impact factor: 11.025

  1 in total

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