| Borochowitz et al. (1992) reported 5 unrelated patients, 1 male and 4 females, with a previously undefined multiple congenital anomalies/mental retardation (MCA/MR) syndrome which they designated the faciocutaneoskeletal (FCS) syndrome. The features included mental retardation with specific sociable, humorous behavior, characteristic facial appearance, generally excessive skin, postnatal growth failure, and skeletal abnormalities. Consanguinity was noted in 2 patients, suggesting autosomal recessive inheritance. Coarse facies, wide hirsute forehead, wide anteverted nostrils, and thick lips were pictured. Martin and Jones (1993), Der Kaloustian (1993), Teebi (1993), Philip and Mancini (1993), and Zampino et al. (1993) suggested that the FCS syndrome described by Borochowitz et al. (1992) is the same as the Costello syndrome. Borochowitz et al. (1993) concluded, on the other hand, that 'it is premature to reach a definite conclusion at this stage.' Patton and Baraitser (1993) reviewed 5 cases from their previous paper on cutis laxa (Patton et al., 1987) and concluded that the appropriate diagnosis was in fact Costello syndrome. Independently, Davies and Hughes (1994) reviewed case 7 from the same paper and, based on both history and clinical examination, made 'an unequivocal diagnosis of Costello syndrome.' In a longer report, Davies and Hughes (1994) described the development of one of the patients of Patton et al. (1987) for more than 10 years and again emphasized that Costello syndrome should be included in the differential diagnosis of cutis laxa in association with postnatal growth retardation and developmental delay. Fryns et al. (1994) described 2 unrelated patients with Costello syndrome, a 12-year-old girl and a 3.5-year-old boy. Severe postnatal growth retardation was the first clinical sign. Characteristic facial changes, loose and hyperelastic skin, and papillomata became progressively more evident with age. The patients presented a pleasant, happy nature and were mildly to moderately mentally retarded. Okamoto et al. (1994) reported the case of a Japanese patient. A fundoplication was performed at the age of 11 months to treat severe gastroesophageal reflux. The infant had congenital bilateral subluxation of the hips. At the age of 7 years, there was generalized pigmentation and acanthosis nigricans around the neck and axilla. Endocrinologic evaluation demonstrated partial deficiency of growth hormone. Stating that 16 cases had been reported, Torrelo et al. (1995) presented the case of a 15-year-old girl and emphasized the cutaneous manifestations of the disorder. | |
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