Anterior segment anomalies of the eye, growth retardation associated with hypoplastic pituitary gland and endocrine abnormalities: Jung syndrome or a new syndrome?

American Journal of Medical Genetics, Part A

Volumn 149, Issue 2, 2009, Pages 251-256

  Al Gazali, Lihadh ^a,d   Shather, Bedir ^b   Kaplan, Waleed ^c   Algawi, Kais ^c   Ali, Bassam R ^a  

^a UNITED ARAB EMIRATES UNIVERSITY   (United Arab Emirates)

^b UNIVERSITY OF LEEDS   (United Kingdom)

^c Tawam Johns Hopkins Hospital   (United Arab Emirates)

^d UNITED ARAB EMIRATES UNIVERSITY   (United Arab Emirates)

Author keywords

Anterior segment anomalies; Autosomal recessive; Consanguinity; Jung syndrome; Peters plus syndrome

Indexed keywords

GALACTOSYLTRANSFERASE; HORMONE; PROTEIN B3GALTL; UNCLASSIFIED DRUG;

ANTERIOR EYE SEGMENT; ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; DISEASE ASSOCIATION; ENDOCRINE DISEASE; EYE MALFORMATION; FEMALE; GENE MUTATION; GROWTH HORMONE DEFICIENCY; GROWTH RETARDATION; HUMAN; HYPOPHYSIS DISEASE; INFANT; NUCLEAR MAGNETIC RESONANCE IMAGING; PETERS ANOMALY; PRIORITY JOURNAL; SCHOOL CHILD; TREATMENT RESPONSE;

ANTERIOR EYE SEGMENT; ARABS; CHILD, PRESCHOOL; ENDOCRINE SYSTEM; EYE ABNORMALITIES; FAMILY HEALTH; GALACTOSYLTRANSFERASES; HUMANS; INFANT; PITUITARY GLAND; SIBLINGS; SYNDROME;

EID: 59849114666     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32626     Document Type: Article

References (17)

1. Al-Gazali LI, Bakir M, Sadaghatian MR, Nath R, Haas D. 1999. Anterior segment anomalies of the eye associated with multiple skeletal abnormalities and early lethality: confirmation of an autosomal recessive syndrome. Clin Dysmorphol 8:87-92.
2. Bakarnia P, Efthymiou M, Klein JC. 2008. Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways. Am J Hum Genet 82:304-319.
3. Bateman JB, Maumenee IH, Sparkes RS. 1984. Peters anomaly associated with partial deletion of the long arm of chromosome 11. Am J Ophthalmol 97:11-15.
4. Bennett CP, Betts DR, Seller MJ. 1991. Deletion 14q (q22q23) associated with anophthalmia, absent pituitary, and other abnormalities. J Med Genet 28:280-281.
5. Boel M, Timmermans J, Emmery L, Dralands G, Fryns JP, Van Den Berge H. 1979. Primary mesodermal dysgenesis of the cornea (Peters anomaly) in two brothers. Hum Genet 51:237-240.
6. Cibis GW, Waeltermann J, Harris DJ. 1985. Peters anomaly in association with ring 21 chromosomal abnormality. Am J Ophthalmol 100:733-734.
7. Elliott J, Maltby EL, Reynolds B. 1993. A case of deletion 14 (q22.1->q22.3) associated with anophthalmia and pituitary abnormalities. J Med Genet 30:251-252.
8. Goode-Jolly D, Bonnin MP. 1966. Opacites corneennes centrales congenitales par anomalie de development emberyologique du segment anterieur de l'oeil (syndrome de peters) Bull. Soc Ophthalmol France 66:917-922.
9. Holmstrom GE, Reardon WP, Baraitser M, Elston JS, Taylor DS. 1991. Heterogeneity in dominant anterior segment malformations. Br J Ophthalmol 75:591-597.
10. Jung C, Wolf G, Back E, Stahl M. 1995. Two unrelated children with developmental delay, short stature and anterior chamber cleavage disorder, cerebellar hypoplasia, endocrine disturbances, and tracheostenosis: a new entity?. Clin Dysmorphol 4:44-51.
11. Lemyre E, Lemieux N, Decarie JC, Lambert M. 1998. Del(14)(q22.1q23.2) in a patient with anophthalmia and pituitary hypoplasia. Am J Med Genet 77:162-165.
12. Lesnik Oberstein SAJ, Kriek M, White SJ, Kalf ME, Szuhai K, den Dunnen JT, Breuning MH, Hennekam RCM. 2006. Peters plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase. Am J Hum Genet 79:562-566.
13. Mayer UM. 1992. Peters anomaly and combination with other malformations. Ophthalmol Paediatr Genet 13:131-135.
14. Moog U, Bleeker-Wagemakers EM, Crobach P, Vles JSH, Schrander-Stumple CTRM. 1998. Sibs with Alexenfeld-Rieger anomaly, hydrocephalus, and leptomeningeal calcifications: a new autosomal recessive syndrome? Am J Med Genet 78:263-266.
15. Ragge NK, Brown AG, Poloschek CM, Lorenz B, Henderson RA, Clarke MP, Russell-Eggitt I, Fielder A, Gerrelli D, Martinez-Barbera JP, Ruddle P, Hurst J, Collin JR, Salt A, Cooper ST, Thompson PJ, Sisodiya SM, Williamson KA, Fitzpatrick DR, van Heyningen V, Hanson IM. 2005. Heterozygous mutations of OTX2 cause severe ocular malformations. Am J Hum Genet 76:1008-1022.
16. Temple IK, Browne C, Hodgkins P. 1999. Anterior chamber eye anomalies, redundant skin and syndactyly- a new syndrome associated with breakpoints at 2q37.2 and 7q36.3. Clin Dysmorphol 8:157-163.
17. Wenniger-Prick LJJM, Hennekam RCM. 2002. The Peters plus syndrome: a review. Ann Genet 45:97-100.