Congenital Malformations of the Brain and Skull, Volumes 1-2; Volumes 7-8; Volume 24; Volumes 30-32; Volume 34; Volume 43; Volume 65; Volume 80; Volume 84; Volume 93; Volume 1976P. J. Vinken, Ntinos Cleovoulou Myrianthopoulos, G. W. Bruyn |
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abnormalities affected individuals affected males anomalies appears Arch associated atrophy autosomal dominant autosomal recessive bilateral biochemical Birth Defects bones brain carnitine carriers cells child chromosome cleft palate clinical condition congenital consanguinity contractures cranial craniosynostosis creatine kinase cryptorchidism deafness deficiency deformity described diagnosis disease disorder distal drome dwarfism dysplasia early etiology facial facies females fibers frequently gene genetic counseling growth hyperostosis hypertelorism hypogonadism hypoplasia hypotonia increased infants lesions limb malformations manifestations ment mental retardation metabolism microcephaly microphthalmia mild mode of inheritance muscle biopsy muscle weakness muscular dystrophy myopathy myotonia myotonia congenita nerve Neurol neurological neuromuscular involvement normal observed occur ocular onset ophthalmoplegia parents patients Pediat present progressive ptosis radiographic rare recessive inheritance recurrence risk renal reported retinal serum severe showed siblings sibs sibship skeletal skin skull spinal sporadic studies suggested surgical symptoms syndactyly syndrome tion tissue usually variable X-linked