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Cardio-Facio-cutaneous (CFC) syndrome: Report of two patients without hyperkeratotic skin lesions |
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| Authors: | Yukihisa Matsuda Ichiro Murano Osamu Kondoh Kiyosato Matsuo Tadashi Kajii |
| Affiliation: | Department of Pediatrics, Makassed Hospital, Jerusalem |
| Abstract: | We report on two boys with the cardio-facio-cutaneous (CFC) syndrome, but without hyperkeratotic skin involvement. They showed most of the manifestations of the CFC syndrome: growth and developmental retardation, relative macrocephaly, distinct facial appearance, sparse hair, and heart defects. Their skin was not hyperkeratotic, but patient 1 had mild atopic dermatitis and keloid-like depigmented spots. |
| Keywords: | mental retardation multiple congenital anomalies syndrome ectodermal dysplasia cardiac defects sporadic occurrence CFC syndrome |