Retinal detachment and cataract, facial dysmorphism, generalized osteoporosis, immobile spine and platyspondyly in a consanguinous kindred - A possible new syndrome

Clinical Genetics

Volumn 59, Issue 2, 2001, Pages 99-105

  Schmidt, H ^a,b   Rudolph, G ^b   Hergersberg, M ^c   Schneider, K ^a   Moradi, S ^b   Meitinger, T ^a  

^a UNIVERSITY OF MUNICH   (Germany)

^b LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^c UNIVERSITY OF ZURICH   (Switzerland)

Author keywords

Autosomal recessive; Cataract; Facial dysmorphism; Osteoporosis; Platyspondyly; Retinal detachment

Indexed keywords

AMINO ACID; GLYCOSAMINOGLYCAN; OLIGOSACCHARIDE;

ADOLESCENT; ADULT; ARTICLE; BODY HEIGHT; BONE AGE; BONE DISEASE; CATARACT; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONNECTIVE TISSUE DISEASE; CONSANGUINITY; CONTROLLED STUDY; EYE DISEASE; FACE DYSMORPHIA; FEMALE; GENE MUTATION; HUMAN; KARYOTYPE; KYPHOSIS; LABORATORY; LENS NUCLEUS; LORDOSIS; LUMBAR SPINE; MALE; OPHTHALMOLOGY; OSTEOPOROSIS; PHENOTYPE; PRIORITY JOURNAL; RADIOLOGY; RELATIVE; RETINA DETACHMENT; SPINE DISEASE; SYNDROME; THORACIC SPINE; TRUNK; VISUAL IMPAIRMENT;

ABNORMALITIES, MULTIPLE; ADULT; CATARACT; CHILD; CHROMOSOME SEGREGATION; CHROMOSOMES, HUMAN, PAIR 1; CHROMOSOMES, HUMAN, PAIR 12; CHROMOSOMES, HUMAN, PAIR 6; CONSANGUINITY; DNA; EYE DISEASES, HEREDITARY; FACE; FEMALE; GENES, RECESSIVE; HUMANS; IRAQ; MALE; MICROSATELLITE REPEATS; OSTEOPOROSIS; PEDIGREE; RETINAL DETACHMENT; SPINE; SYNDROME;

EID: 0035102835     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2001.590206.x     Document Type: Article

References (12)

1. Osteoporosis-pseudoglioma syndrome: Clinical, morphological, and biochemical studies
2. Hereditary progressive arthoophthalmopathy
3. The type II collagenopathies: A spectrum of chondrodysplasias
4. Stop codon in the procollagen II gene (COL2A1) in a family with Stickler syndrome (arthro-ophthalmopathy)
5. Zur Abgrenzung der Dysostosis enchondralis von der Chondrodystrophie
6. Kniest dysplasia: Dr. W. Kniest, his patient, the molecular defect
7. Physical growth of Swiss children from birth to 20 years of age
8. Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13
9. Brachyolmia: A skeletal dysplasia with an altered mucopolysaccharide excretion
10. Homocystinuria, a new disorder of metabolism. X
11. Autosomal dominant and recessive osteochondrodysplasias associated with the COL 11A2 locus