Literature DB >> 2596505

Cardio-facio-cutaneous (CFC) syndrome: report of a new patient.

K Chrzanowska1, J P Fryns, H Van den Berghe.   

Abstract

We describe a girl with the cardio-facio-cutaneous (CFC) syndrome. She presented most of the characteristics of the new multiple congenital anomalies/mental retardation (MCA/MR) syndrome: unusual facial appearance and ectodermal symptoms, that is, abnormal hair and skin, ventricular septum defect, relative macrocephaly with large ventricles and cortical "atrophy," submucous cleft palate, and umbilical hernia. Her twin brother died shortly after birth and may have had the same malformation syndrome.

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Year:  1989        PMID: 2596505     DOI: 10.1002/ajmg.1320330410

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  4 in total

1.  Cardiofaciocutaneous syndrome with new ectodermal manifestations.

Authors:  P D Turnpenny; J C Dean; I A Auchterlonie; A W Johnston
Journal:  J Med Genet       Date:  1992-06       Impact factor: 6.318

Review 2.  The cardio-facio-cutaneous syndrome: report of a patient and review of the literature.

Authors:  A Bottani; I Hammerer; A Schinzel
Journal:  Eur J Pediatr       Date:  1991-05       Impact factor: 3.183

3.  Ras signaling and RREB1 are required for the dissociation of medial edge epithelial cells in murine palatogenesis.

Authors:  Toshihiro Inubushi; Ayaka Fujiwara; Takumi Hirose; Gozo Aoyama; Toshihiro Uchihashi; Naoki Yoshida; Yuki Shiraishi; Yu Usami; Hiroshi Kurosaka; Satoru Toyosawa; Susumu Tanaka; Tetsuro Watabe; Mikihiko Kogo; Takashi Yamashiro
Journal:  Dis Model Mech       Date:  2022-02-15       Impact factor: 5.758

Review 4.  The impact of RASopathy-associated mutations on CNS development in mice and humans.

Authors:  Minkyung Kang; Yong-Seok Lee
Journal:  Mol Brain       Date:  2019-11-21       Impact factor: 4.041

  4 in total

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