Cardio-facio-cutaneous syndrome: First presentation in a 52-year-old woman
✍ Scribed by McGaughran, Julie
- Publisher
- John Wiley and Sons
- Year
- 2002
- Tongue
- English
- Weight
- 193 KB
- Volume
- 116A
- Category
- Article
- ISSN
- 0148-7299
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✦ Synopsis
Cardio-facio-cutaneous (CFC) syndrome was first described in 1986 [Reynolds et al., 1986]. The features include congenital heart defects, a characteristic facial appearance, ectodermal abnormalities, short stature, and developmental delay. There is a clinical overlap with Noonan syndrome and they may represent different manifestations of the same condition [Fryer et al., 1991;Leichtman, 1996]. It is also felt that Costello syndrome [Costello, 1977] may be part of the same spectrum of conditions. Most cases have been described in children, although a 25-year-old woman has been described with CFC [Manoukian et al., 1996].
The patient presented here has features of CFC syndrome and was seen for diagnosis at 52 years of age. She demonstrates the features of the condition in the older patient.
The patient was referred for diagnosis as her family was concerned about any possible health problems she may develop. She had a lifelong history of developmental delay and short stature. She was born weighing 2.85 kg (<10th centile) at term but had poor feeding and weight gain. She was always noted to have fine, brittle hair, which grew slowly. She had learning difficulties and lived in sheltered accommodation. Her speech was not clear. She had always had very dry, scaly skin, which had been difficult to treat with emollients and other therapies. She had no history of easy bruising or joint laxity. Five years previously, she had developed mild Fig. 1. A: The Facial appearance of patient showing ptosis. Note fine, brittle hair. B: Lateral view showing posterior angulation of her ear.