Syndrome of congenital cataracts, sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation: Two additional cases

American Journal of Medical Genetics, Part A

Volumn 143, Issue 21, 2007, Pages 2581-2587

  Keppler Noreuil, Kim ^a   Welch, Judy ^a   Baker Lange, Katherine ^b  

^a UNIVERSITY OF IOWA HOSPITALS AND CLINICS   (United States)

^b PARK NICOLLET INSTITUTE   (United States)

Author keywords

Cataracts; Chromosome 11q25 deletion; Down syndrome like facial appearance; MCA MR syndrome; Sensorineural deafness

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 11Q; CHROMOSOME ANALYSIS; CLINICAL FEATURE; CONGENITAL CATARACT; DOWN SYNDROME; FACIES; FEMALE; GENE DELETION; GENE LOCATION; HUMAN; MALE; MENTAL DEFICIENCY; MICROARRAY ANALYSIS; PERCEPTION DEAFNESS; PRIORITY JOURNAL; SHORT STATURE; SKELETON MALFORMATION; TELOMERE; TERMINAL SEQUENCE;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; CATARACT; CHILD; DOWN SYNDROME; DWARFISM; FACE; FEMALE; HEARING LOSS, SENSORINEURAL; HUMANS; INFANT; INFANT, NEWBORN; MENTAL RETARDATION; SYNDROME;

EID: 35848968681     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31990     Document Type: Article

References (16)

1. Ayme S, Philip N. 1996. Fine-Lubinsky syndrome: A fourth patient with brachycephaly, deafness, cataract, microstomia and mental retardation. Clin Dysmorphol 5:55-60.
2. Ayme S, Philip N. 1997. Apparently new syndrome of congenital cataracts, sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation. Am J Med Genet 70:333.
3. Bader PI, Saksena S, Bixler D. 1985. Craniofacial and skeletal abnormalities associated with deafness, eye findings, and cryptorchidism: A new syndrome? Proceedings of the Greenwood Center, Abstract of the D. Smith Workshop 4:134-135.
4. Begeer JH, Scholte FA, van Essen AJ. 1991. Two sisters with mental retardation, cataract, ataxia, progressive hearing loss, and polyneuropathy. J Med Genet 28:884-885.
5. Fine BA, Lubinsky M. 1983. Craniofacial and CNS anomalies with body asymmetry, severe retardation, and other malformations. J Clin Dysmorphol 1:6-9.
6. Giampietro PF, Babu D, Zabel CA, Silberman T, Zador I, DeBauche D, Ravnan JB, Dave BJ. 2006. Novel clinical features in a child with partial deletion of chromosome 11 [del(11)(q24. 2)]: Further evidence for phenotypic heterogeneity. Am J Med Genet Part A 140A:385-387.
7. Gripp KW, Nicholson L, Scott CI. 1996. Apparently new syndrome of congenital cataracts, sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation. Am J Med Genet 61:382-386.
8. Gripp KW, Scott CI, Nicholson L. 1997. Reply to Ayme and Philip. Am J Med Genet 70:334-335.
9. Grossfeld PD, Mattina T, Lai Z, Favier R, Jones KL, Cotter F, Jones C. and the 11q Consortium. 2004. The 11q terminal deletion disorder: A prospective study of 110 cases. Am J Med Genet Part A 129A:51-61.
10. Guala A, Germinetti V, Sebastiani F, Silengo MC. 1992. A syndrome of progressive sensorineural deafness and cataract inherited as an autosomal dominant trait. Clin Genet 41:294-295.
11. Miller GL, Somani S, Nowaczyk MJM, Feigenbaum A, Davidson RG, Costa T, Levin AV. 2006. The ocular manifestations of Jacobsen syndrome: A report of four cases and a review of the literature. Ophthalmic Genet 27:1-7.
12. Nadol JBJ, Burgess B. 1982. Cochleosaccular degeneration of the inner ear and progressive cataracts inherited as an autosomal dominant trait. Laryngoscope 92:1028-1037.
13. Nakane T, Mizobe N, Hayashibe H, Nakazawa S. 2002. A variant of Fine-Lubinsky syndrome: A Japanese boy with profound deafness, cataracts, mental retardation, and brachycephaly without craniosynostosis. Clin Dysmorphol 11:195-198.
14. Nucci P, Mets MB. 1990. Cataract, hearing loss and hypercholesterolemia. Acta Ophthalmol 68:739-742.
15. Preus M, Cooper AR, O'Leary E. 1984. Syndrome identification case report 117: Sensorineural hearing loss, small facial features, submucous cleft palate, and myoclonic seizures. J Clin Dysmorphol 1:6-9.
16. Suthers GK, Earley AE, Huson SM. 1993. A distinctive syndrome of brachycephaly, deafness, cataracts and mental retardation. Clin Dysmorphol 2:342-345.