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 |
From inside the book
Results 1-3 of 87
Page 87
... affected males only occur in a single sibship of a family . The loci for Duchenne muscular dystrophy and Becker muscular dystrophy are not allelic , but are situated some distance apart on the X chromosome . Being inherited as an X ...
... affected males only occur in a single sibship of a family . The loci for Duchenne muscular dystrophy and Becker muscular dystrophy are not allelic , but are situated some distance apart on the X chromosome . Being inherited as an X ...
Page 302
... affected males and transmission through carrier females . Recognition of this entity was therefore dependent on a family his- tory showing several similarly mentally retarded males without consistent physical signs , whose pattern of ...
... affected males and transmission through carrier females . Recognition of this entity was therefore dependent on a family his- tory showing several similarly mentally retarded males without consistent physical signs , whose pattern of ...
Page 303
... male excess among mental retardates . The life expectancy of the affected males has not been evaluated but appears like that of the normal population . Most patients have been white , but black patients have been reported from ...
... male excess among mental retardates . The life expectancy of the affected males has not been evaluated but appears like that of the normal population . Most patients have been white , but black patients have been reported from ...
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