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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Page 281
... microphthalmia 4 Mental retardation with multiple congenital anomalies ( The N syndrome. a b 25 % for subsequent sibs of affected individuals . Unaffected sibs should have little chance of recurrence unless a consanguineous mating occurs ...
... microphthalmia 4 Mental retardation with multiple congenital anomalies ( The N syndrome. a b 25 % for subsequent sibs of affected individuals . Unaffected sibs should have little chance of recurrence unless a consanguineous mating occurs ...
Page 282
... microphthalmia ' since this is a broad classification used for estimating prevalence . The conditions to be discussed have been described as showing microphthalmia and men- tal retardation with or without other anomalies . By definition ...
... microphthalmia ' since this is a broad classification used for estimating prevalence . The conditions to be discussed have been described as showing microphthalmia and men- tal retardation with or without other anomalies . By definition ...
Page 283
... microphthalmia syndrome ' was proposed by Herrmann and Opitz ( 1969 ) . Sporadic occurrence of microph- thalmia , mental retardation and cataracts was reported for males only , seven individuals , by Sjögren and Larsson ( 1949 ) . The ...
... microphthalmia syndrome ' was proposed by Herrmann and Opitz ( 1969 ) . Sporadic occurrence of microph- thalmia , mental retardation and cataracts was reported for males only , seven individuals , by Sjögren and Larsson ( 1949 ) . The ...
Common terms and phrases
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