Ocular phenotype in a child with a rhizomelic chondrodysplasia punctata;Phenotype oculaire chez un enfant atteint d'une chondrodysplasia punctata, forme rhizomelique

Klinische Monatsblatter fur Augenheilkunde

Volumn 210, Issue 5, 1997, Pages 329-331

  Sanchez, Enrique ^a,c   Munier, F ^a   Evequo B ^b   Marcoz, J P ^b   Balmer, A ^a  

^a HÔPITAL OPHTALMIQUE JULES GONIN   (Switzerland)

^b Sion   (Switzerland)

^c Hôpital Ophtalmique Jules   (Switzerland)

Author keywords

Cataracts; Microphakia; Rhizomelic chondrodysplasia punctata

Indexed keywords

ARTICLE; CALCIFICATION; CALCIFYING CHONDRODYSTROPHY; CASE REPORT; CATARACT; CLINICAL FEATURE; FEMALE; HUMAN; MALE; X CHROMOSOME DOMINANT INHERITANCE; X CHROMOSOME RECESSIVE INHERITANCE; CHILD; CHONDRODYSPLASIA PUNCTATA; CHROMOSOME ABERRATION; CHROMOSOME DISORDER; CONSANGUINITY; FOLLOW UP; GENETICS; LENS IMPLANT; PHENOTYPE; RECESSIVE GENE;

CATARACT; CHILD; CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC; CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; CONSANGUINITY; FOLLOW-UP STUDIES; GENES, RECESSIVE; HUMANS; LENSES, INTRAOCULAR; MALE; PHENOTYPE;

EID: 0031137641     PISSN: 00232165     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2008-1035067     Document Type: Article

References (4)

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2. Hünermann C. Chondrodystrophia calcificans congenita als abortive Form des Chondrodystrophie. Z Kinderheilk 1931; 51:1-19
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4. Schutgens RBH, Wanders RJA, Nijenhuis AA, Purvis R, Dekker C. Int Pediatr 1983; 8:45-51