American Journal of Medical Genetics 41:265-266 (1991)
Letter to the Editor Cardiofacio Cutaneous Syndrome: Notes on Clinical Variability and Natural History To the Editor: The phenotype of the cardiofacio cutaneous (CFC) syndrome is definite and clearly recognizable. Its major manifestations are congenital heart defects, characteristic face, and ectodermal abnormalities. The spectrum of congenital heart defects in CFC syndrome is wide, pulmonic stenosis and atrial septal defect being the most common. Among facial abnormalities there can be found hypoplastic supraorbital ridges, antimongoloid slants of palpebral fissures, palpebral ptosis, depressed nasal bridge with anteverted nostrils, and posteriorly angulated auricles with hypertrophic helix. Ectodermal abnormalities consist of sparse, friable and curly hair, patchy alopecia, hycthyotic, or hyperkeratotic skin. Although it is now accepted that CFC syndrome is a genetic entity, its etiology remains unclear. All reported cases have been sporadic with no family history of parental consanguinity and 1: 1 sex ratio. Little information exists about natural history of the CFC syndrome. Our experience is based on the observations of 2 unrelated patients coming from different areas of western Sicily.
PATIENT 1 Male child, born to healthy and nonconsanguineous parents (mother aged 41 years, father 45 years). Two previous sibs are normal. Delivery was spontaneous at term, after an uneventful pregnancy; birthweight was 3,150 g. Growth retardation and mental developmental delay were noted from the first year of life. The boy was referred to our clinic when he was 9 years old. His height was 105 cm (
Letter to the Editor Cardiofacio Cutaneous Syndrome: Notes on Clinical Variability and Natural History To the Editor: The phenotype of the cardiofacio cutaneous (CFC) syndrome is definite and clearly recognizable. Its major manifestations are congenital heart defects, characteristic face, and ectodermal abnormalities. The spectrum of congenital heart defects in CFC syndrome is wide, pulmonic stenosis and atrial septal defect being the most common. Among facial abnormalities there can be found hypoplastic supraorbital ridges, antimongoloid slants of palpebral fissures, palpebral ptosis, depressed nasal bridge with anteverted nostrils, and posteriorly angulated auricles with hypertrophic helix. Ectodermal abnormalities consist of sparse, friable and curly hair, patchy alopecia, hycthyotic, or hyperkeratotic skin. Although it is now accepted that CFC syndrome is a genetic entity, its etiology remains unclear. All reported cases have been sporadic with no family history of parental consanguinity and 1: 1 sex ratio. Little information exists about natural history of the CFC syndrome. Our experience is based on the observations of 2 unrelated patients coming from different areas of western Sicily.
PATIENT 1 Male child, born to healthy and nonconsanguineous parents (mother aged 41 years, father 45 years). Two previous sibs are normal. Delivery was spontaneous at term, after an uneventful pregnancy; birthweight was 3,150 g. Growth retardation and mental developmental delay were noted from the first year of life. The boy was referred to our clinic when he was 9 years old. His height was 105 cm (
