Carpenter syndrome: report of two siblings.
Carpenter syndrome consists of acrocephaly, soft tissue syndactyly, short fingers, preaxial polydactyly, congenital heart disease, hypogenitalism, cryptorchidism, obesity, umbilical hernia and mental retardation. Here we report two affected sibs (IQs were 80 and 93) presenting various cerebrospinal malformations, i.e. frontal lobe deformity, narrowed foramen magnum, hypoplastic posterior fossa, kinked spinal cord, and syrinx cavitation demonstrated by magnetic resonance imaging.
Ondokuz Mayis University, School of Medicine, Department of Pediatrics, Samsun, Turkey.
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D000015:Abnormalities, Multiple / Q000473:pathology*; D002490:Central Nervous System / Q000002:abnormalities; D002648:Child; D003241:Consanguinity; D019066:Facies; D005532:Foot Deformities, Congenital; D006228:Hand Deformities, Congenital; D006801:Humans; D007360:Intelligence; D008297:Male; D009679:Nuclear Family; D009765:Obesity; D013577:Syndrome