Literature DB >> 12859108

Ultrasonographic prenatal diagnosis of Treacher Collins syndrome: a case report.

Pornpimol Ruangvutilert1, Anuwat Sutantawibul, Prasert Sunsaneevithayakul, Chanin Limwongse.   

Abstract

A case of Treacher Collins syndrome (TCS) diagnosed prenatally using ultrasonography is reported. The pregnant woman was gravida 2, para 0. Her husband had stigmata of the syndrome. Ultrasonography revealed polyhydramnios, abnormal fetal ears and marked micrognathia. Abortion occurred spontaneously at 26 weeks of gestation. The abortus bore clinical features of the syndrome.

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Year:  2003        PMID: 12859108

Source DB:  PubMed          Journal:  J Med Assoc Thai        ISSN: 0125-2208


  2 in total

1.  A case of treacher collins syndrome.

Authors:  S Ulusal; H Gürkan; U Vatansever; K Kürkçü; H Tozkir; Ba Acunaş
Journal:  Balkan J Med Genet       Date:  2013-12       Impact factor: 0.519

2.  Identification of a novel gross deletion of TCOF1 in a Chinese prenatal case with Treacher Collins syndrome.

Authors:  Jing Liu; Pengsiyuan Lin; Jialun Pang; Zhengjun Jia; Ying Peng; Hui Xi; Lingqian Wu; Zhuo Li; Hua Wang
Journal:  Mol Genet Genomic Med       Date:  2020-06-15       Impact factor: 2.183

  2 in total

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