C 0 s tello or Facio-Cut aneous-Skelet a1 Syndrome? 2 ' 0 the Editor: Borochowitz et al. [19921 described five unrelated patients (a male and four females) with a presumably undefined multiple congenital anomalies/mental retardation syndrome which has been designated the faciocutaneous-skeletal (FCS) syndrome. The specific manifestations included macrocephaly at birth, coarse face with downward slanting of palpebral fissures and thick lips, curly hair, redundant skin with hyperkeratosis, deep palmar and plantar creases, heart defect, skeletal abnormalities manifested primarily as positional defects of the feet and restricted motion of elbows and hips, and humorous sociable behavior. The authors suggested that their patients differ from those described by Costello [19771 but they did not specify in what manner. However, on careful analysis of these patients, they do not appear to be significantly different from those with Costello syndrome, except with regards to the papillomata around the mouth and nares Der Kaloustian et al., 1991; Martin and Jones, 19921. Such papillomata are age dependent; the age-of-onset in the four previously described patients was 6V2 and 2 years [Costello, 19771,31/2 years [Der Kaloustian et al., 19911, and 15 years [Martin and Jones, 19921. Teebi and Shaabani [19921 have described another patient who showed no papillomata at age 6 years. The Borochowitz et al. 119923 patients ranged in age from 4 months to 6112 years.
In addition to the five previously described patients with Costello syndrome, the five patients described by Borochowitz et al. [19921 were sporadic. It is not possible at this time to deterrnine specifically the mode of inheritance. Although autosomal recessive inheritance remains a possibility, consanguinity among the two sets of Arabic-Druze parents described by may not be of great impact when analyzing such sporadic cases since the chance of parental consanguinity in this community at large is probably around 1 in 2.
From a nosologic perspective, facio-cutaneous-skeletal syndrome may be used as a synonym for the Costello syndrome or vice versa.