+ Site Statistics
+ Search Articles
+ PDF Full Text Service
How our service works
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ Translate
+ Recently Requested

A new case of Balci's syndrome (corneal opacity, microphthalmia, microcephaly, mental retardation, and generalized muscular spasticity associated with congenital heart disease)



A new case of Balci's syndrome (corneal opacity, microphthalmia, microcephaly, mental retardation, and generalized muscular spasticity associated with congenital heart disease)



Turkish Journal of Pediatrics 43(4): 366-368



The association of corneal opacity, microphthalmia, microcephaly, mental retardation, and generalized muscular spasticity with hyperglycinemia was presented for the first time by Balci and colleagues in 1974. After this report, some similar cases in the literature were referred to as Balci's syndrome. In this paper we describe a new case of Balci's syndrome, a 2.5-month-old female patient with corneal opacity, microphthalmia, microcephaly, mental retardation, and generalized muscular spacticity. All of these findings are acceptable as Balci's syndrome, and in addition she had congenital heart disease (ventricular septal defect) and renal anomalies. In this paper other syndromes associated with corneal opacity and mental retardation are discussed.

Please choose payment method:






(PDF emailed within 1 workday: $29.90)

Accession: 045079192

Download citation: RISBibTeXText

PMID: 11765173


Related references

Corneal opacity, microphthalmia, mental retardation, microcephaly and generalized muscular spasticity associated with hyperglycinemia. Clinical Genetics 5(1): 36-39, 1974

X-linked microcephaly, microphthalmia, microcornea, congenital cataract, hypogenitalism, mental deficiency, growth retardation, spasticity: possible new syndrome. American Journal of Medical Genetics 66(2): 179-183, 1996

Unknown syndrome in sibs: microcephaly, seizures, mental retardation, congenital heart disease, and skeletal abnormalities. Journal of Medical Genetics 26(10): 665-666, 1989

The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation. Human Mutation 27(5): 453-459, 2006

Congenital muscular dystrophy associated with calf hypertrophy, microcephaly and severe mental retardation in three Italian families: evidence for a novel CMD syndrome. Neuromuscular Disorders 10(8): 541-547, 2000

An X-linked syndrome with microcephaly, severe mental retardation, spasticity, epilepsy and deafness. Journal of Mental Deficiency Research 26(Pt 1): 27-40, 1982

Familial non-congenital microcephaly, peculiar appearance, mental and motor retardation, progressive evolution to spasticity and choreo-athetosis. Helvetica Paediatrica Acta 23(1): 1-12, 1968

Colobomatous microphthalmia, heart disease, hearing loss, and mental retardation--a syndrome. Journal of Pediatric Ophthalmology and Strabismus 16(2): 122-128, 1979

Microcephaly, microphthalmia, congenital cataract, optic atrophy, short stature, hypotonia, severe psychomotor retardation, and cerebral malformations: a second family with micro syndrome or a new syndrome?. Journal of Medical Genetics 36(8): 637-640, 1999

Merosin-positive congenital muscular dystrophy with mental retardation, microcephaly and central nervous system abnormalities unlinked to the Fukuyama muscular dystrophy and muscular-eye-brain loci: report of three siblings. Neuromuscular Disorders 11(6-7): 570-578, 2001

Lambotte syndrome: microcephaly, holoprosencephaly, intrauterine growth retardation, facial anomalies, and early lethality--a new sublethal multiple congenital anomaly/mental retardation syndrome in four sibs. American Journal of Medical Genetics 37(1): 119-123, 1990

Microphthalmos, Corneal Opacity, Mental Retardation, And Spastic Cerebral Palsy; An Oculocerebral Syndrome. Journal of Pediatrics 67: 387-398, 1965

Syndromic anorectal malformation associated with Holt-Oram syndrome, microcephaly, and bilateral corneal opacity: a case report. Journal of Medical Case Reports 10(1): 216, 2016

A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation. European Journal of Human Genetics 15(1): 29-34, 2006

Esophageal atresia, hypoplasia of zygomatic complex, microcephaly, cup-shaped ears, congenital heart defect, and mental retardation--new MCA/MR syndrome in two affected sibs and a mildly affected mother?. American Journal of Medical Genetics. Part A 143a(11): 1135-1142, 2007