Report of a third family with Oliver syndrome.

Isolated postaxial polydactyly is an autosomal dominant hereditary trait that can be a feature of more than 80 Mendelian or chromosomal disorders [Gorlin et al., 2001]. Polydactyly, in associationwithmental retardation, occurs in a number of syndromes, while the combination of these two features in the absence of other symptoms is rare [Castilla et al., 1998]. Here, we report on two sibs manifesting mental retardation, postaxial polydactyly, and epilepsy, an association suggesting the diagnosis ofOliver syndrome [Oliver, 1940; Stevenson and Wilkes, 1983]. Patient 1 was a 19-year-old boy, the firstborn of healthy nonconsanguineous parents. The mother had three spontaneous abortions, but the family history was otherwise unremarkable. The pregnancy was complicated by intrauterine growth retardation (IUGR). Delivery at term was normal, with a birth weight of 2,350 g (<3rd centile), length 47 cm (3rd centile),OFD32cm(3rd centile). APGARscoreswere6and9at 1 and 5 min, respectively. At 2 months of age, he developed generalized seizures, which were controlled by anticonvulsant drugs. Developmental milestones were delayed with an I.Q of 70 (Terman-Merril scale) at the age of 9 years. Since the age of 3 years he hasundergone developmental and speech therapies. The patient was first evaluated by us at age 18 years, when the family requestedgenetic counseling (Fig. 1).Hisheightwas 165 cm (3rd centile) (similar to the midparental height of 166 cm), weight was 67 kg (50th centile), and OFD 53 cm (10th centile). Slight body asymmetry was apparent, with an underdeveloped right side. Facial features were generally similar to those in his parents. However, he also had prominent, thick eyebrows, malocclusion, high-arched palate, and rounded and prominent jaw. There was also a thoracic left convex lateral scoliosis. The hands showed postaxial scars. His clinical records noted that bilateral postaxial fingers had been surgically removed at the age of 8 years (rudimentary right finger and a left cutaneous appendage). He also had bilateral cutaneous syndactyly of fingers 2–5, clinodactyly of the fifth fingers, and fingertip pads. His lower limbs were normal. Laboratory tests, including extensive metabolic studies, karyotype, and FRAXA analyses were normal. A skeletal radiograph survey was unremarkable. A cerebral MRI disclosed thinning of the cerebral cortex in front of the ventricular collateral trigone. Patient 2 was the 13-year-old sister of Patient 1 (Fig. 2A). Pregnancy was uncomplicated, and delivery at term was normal. Her birth weight was 2,850 g (10th centile), length 47 cm (3rd centile), and OFD 33 cm (10th centile). Her APGAR scores were 8 and 9, at 1 and 5 min, respectively. At 4 months she developed seizures, which were controlled by anticonvulsant drugs. Her psychomotor development was delayed, with an I.Q of 68 (Terman-Merril scale) at the age of 7 years. On physical examination, her height was 137 cm (3rd centile), weight 34 kg (10th centile), and OFD 50 cm (<3rd centile). Her body asymmetry was more marked compared to her brother. Her left leg was 1 cm shorter than the right. She also had malocclusion, high-arched palate, and thoracic right convex lateral scoliosis. She had postaxial polydactyly of the left hand, witha camptodactylous extradigit, bilateral clinodactyly of the fifth fingers, cutaneous syndactyly of fingers 2–5, and prominent fingertip pads (Fig. 2B). Postaxial polydactyly was also present on the right foot, with bilateral brachydactyly of toes 3–5 (Fig. 2C). The speech was indistinct, faltering, and scanty in expression. Laboratory tests, including metabolic studies, karyotype, and FRAXA analyses were normal. Skeletal X-rays disclosed postaxial polydactyly type A of the left hand and right foot, bilateral dysplasia of the fifth fingers and of the extra finger, bilateral symphalangysm of proximal interphalangeal joints of the fifth fingers, fusion of two phalanges and aplasia of distal phalanges of sixth finger, brachydactyly of toes 3–5 and fusion of two phalanges of sixth toe (Fig. 3). A cerebral MRI disclosed