We report on a patient with bilateral multiple craniosynostosis involving the coronal and lambdoid sutures, high myopia, obesity, vertebral anomalies, minor acral anomalies and normal intelligence. The clinical features are not typical of any known craniosynostosis syndrome. Search of POSSUM, London Dysmorphology Database (LDDB), online Mendelian Inheritance in Man (OMIM), and the medical literature failed to find any similar case. The constellation of manifestations in this patient suggests a previously unrecognized syndrome resembling Carpenter syndrome. Key words: New syndrome, craniosynostosis, Carpenter syndrome. INTRODUCTION Craniosynostosis (premature suture fusion) can be either classified as simple or multiple. In simple craniosynostosis, only one suture is involved. In multiple craniosynostosis, two or more sutures are synostosed. Multiple synostosis occurs in approximately 5% of nonsyndromic cases of craniosynostosis (Cohen and MacLean, 2000). Two-suture synostosis accounts for about two-thirds of the cases, while more than two sutures are involved in one-third of the cases. The more sutures synostosed, the greater the risk for an individual to bear mental retardation. About 35% of cases with more than two sutures synostosed show lacunae (small cavities within the bone matrix containing osteocytes) in their skull radiographies (Cohen and MacLean, 2000). A number of craniofacial syndromes with multiple suture synostosis have considerable overlap in their manifestations. Bilateral coronal synostosis is the most commonly observed, however bilateral coronal and lambdoid synostosis or a combination of bilateral coronal synostosis and sagittal synostosis have also been noted, amongst other combinations (Barkovich, 2000). When the sagittal suture is synostotic in conjunction with both coronal sutures (and, sometimes, both lambdoid sutures), the membranous bone of the calvaria expands between the sutures, resulting in a characteristic lobulated skull configuration known as cloverleaf skull [Kleeblattschadel] (Angle et al., 1967; Lodge et al., 1993; Cohen, 1993; Goh et al., 1997). Carpenter syndrome, although it was first described in 1901and 1909 by George Carpenter (British physician), it was not recognized as a distinct nosologic and genetic entity, and as a new syndrome (acrocephalopolysyndactyly type II) until Samia Temtamy's article (Egyptian physician) in 1966. Sakati et al. (1971) have suggested that this syndrome might more appropriately be called the Temtamy syndrome, as the sisters originally reported by Carpenter did have cranial sutures and had other differences from Temtamy's patient and others reported since. About 100 cases have been described in the worldwide medical literature, therefore, Carpenter syndrome is one of the rarest forms of the craniofacial disorders and has an estimated occurrence rate of approximately one in a million male and female live births. In addition to the multiple suture craniosynostosis, which may present as a cloverleaf skull, the most characteristic abnormality of the Carpenter syndrome is the presence of polydactyly of the fingers and or toes; brachydactyly and syndactyly of the hands (Saxena et al., 1970; Cohen, 1979; Goodman et al., 1979). Other abnormalities include congenital heart defects, obesity, short stature and mental retardation (Robinson et al., 1985; Cohen and MacLean, 2000), and also bilateral sensorineural hearing loss (Tarhan et al., 2004). Mild to moderate mental deficiencies are common (about 75% of all cases) and IQ score have ranged from 52 to 104 (Frias et al., 1978; White et al., 1987; Jamil et al., 1992; Richieri-Costa et al., 1993). Autosomal recessive inheritance is supported by the reports of families with consanguinity (Der Kaloustian et al., 1972; Richieri-Costa et al., 1993) and multiple
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Nov 6, 2013
Caroline C Watson + 3
Open Access