Cardiofaciocutaneous syndrome (CFC) is a rare syndrome drome characterized by short stature, congenital heart defects, mental retardation, ectodermal abnormalities, and dysmorphic facial features. The syndrome was first described in 1986 [1]. Since then, at least 59 cases have been reported, from several continents [2]. CFC syndrome is a sporadic disorder, the cause of which is unknown. Attempts to identify a causative genetic mutation have thus far been unsuccessful.

Typical physical findings in CFC syndrome include short stature, webbed neck, relative macrocephaly, hypotonia, and developmental delay. Congenital cardiac defects (most frequently valvular pulmonary stenosis and atrial septal defects) are common. There is a typical chocephaly, a short nose with depressed nasal bridge and anteverted nostrils, low and posteriorly angulated ears, hypertelorism, ptosis, epicanthal folds, and downslanting palpebral fissures. Ectodermal abnormalities such as sparse, slow-growing curly hair, sparse or absent eye lashes and eyebrows, follicular keratosis, ichthyosis, generalized hyperpigmentation, and slow growth of nails are also common in CFC syndrome. The differential diagnosis for this disorder includes Noonan syndrome and Costello syndrome.

None of these clinical findings are pathognomonic. A diagnostic scale--the CFC Index--has been devised to assist with the diagnosis [2]. This index, originally based on clinical findings of a large Brazilian cohort of individ uals with the CFC syndrome, assigns a value to each trait the summation of all values must fall within two standard deviations of the mean to confidently diagnose the disorder.

Common neurologic manifestations of CFC syndrome include (in decreasing frequency) mental retardation, macrocephaly, delayed speech, hypotonicity, seizures, hydrocephalus, and hypertonicity. Until the present report, no peripheral nervous system manifestations had been reported in association with CFC syndrome.