Ophthalmic features of hypoparathyroidism-retardation-dysmorphism

Journal of AAPOS

Volumn 11, Issue 3, 2007, Pages 288-290

  Khan, Arif O ^a   Al Assiri, Abdullah ^a   Al Mesfer, Saleh ^a  

^a KING KHALED EYE SPECIALIST HOSPITAL   (Saudi Arabia)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM; GENTAMICIN; VANCOMYCIN;

ANTERIOR FONTANEL; ARTICLE; CASE REPORT; CLINICAL FEATURE; CORNEA OPACITY; EYE COLOR; FACE DYSMORPHIA; FEMALE; GENE MUTATION; HUMAN; HYPOPARATHYROIDISM; INFANT; INTRAUTERINE GROWTH RETARDATION; IRIDOCYCLITIS; MACROCEPHALY; MALE; MICROPHTHALMIA; MICROSCOPY; PHENOTYPE; POSTNATAL GROWTH; PRESCHOOL CHILD; PRIORITY JOURNAL; RETINA BLOOD VESSEL; SAUDI ARABIA; SKIN DEFECT; SLIT LAMP; VISUAL ACUITY;

CHILD, PRESCHOOL; CORNEAL OPACITY; CRANIOFACIAL ABNORMALITIES; FEMALE; FETAL GROWTH RETARDATION; HUMANS; HYPERPARATHYROIDISM; INFANT; KERATITIS; MALE; MENTAL RETARDATION; MICROPHTHALMOS; MOLECULAR CHAPERONES; SAUDI ARABIA; SYNDROME;

EID: 34250156316     PISSN: 10918531     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jaapos.2006.10.015     Document Type: Article

References (8)

1. Parvari R., Hershkovitz E., Grossman N., Gorodischer R., Loeys B., Zecco A., et al. Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenney-Caffey syndrome. Nat Genet 32 (2002) 448-452
2. Sanjad S.A., Sakati N.A., Abu-Osba Y.K., Kaddoura R., and Milner R.D. A new syndrome of congenital hypoparathyroidism, severe growth failure, and dysmorphic features. Arch Dis Child 66 (1991) 193-196
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6. Al-Dhoyan N., Al-Hemidan A.I., and Ozand P.T. Ophthalmic manifestations of Sanjad-Sakati syndrome. Ophthalmic Genet 27 (2006) 83-87
7. Daneman D., Kooh S.W., and Fraser D. Hypoparathyroidism and pseudohypoparathyroidism in childhood. Clin Endocrinol Metab 11 (1982) 211-231
8. Hershkovitz E., Parvari R., Diaz G.A., and Gorodischer R. Hypoparathyroidism-retardation-dysmorphism (HRD) syndrome-a review. J Pediatr Endocrinol Metab 17 (2004) 1583-1590