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

Volumn 43, Issue 4, 2001, Pages 366-368

  Balci, S ^a   Demirceken F G ^a   Ocal B ^a   Zorlu, P ^a   Tezic T ^a  

^a HACETTEPE UNIVERSITY   (Turkey)

Author keywords

Balci's syndrome; Congenital heart disease; Corneal opacity; Mental retardation; Microcephaly; Microphthalmia

Indexed keywords

GLYCINE;

ARTICLE; BALCI SYNDROME; CASE REPORT; CAUSE OF DEATH; CONGENITAL HEART DISEASE; CORNEA OPACITY; DISEASE ASSOCIATION; ECHOGRAPHY; ELECTROCARDIOGRAPHY; FAMILY HISTORY; FEMALE; HUMAN; HYPERGLYCINEMIA; INFANT; KIDNEY MALFORMATION; LABORATORY TEST; MEDICAL LITERATURE; MENTAL DEFICIENCY; MICROCEPHALY; MICROPHTHALMIA; MULTIPLE MALFORMATION SYNDROME; NOMENCLATURE; PHYSICAL EXAMINATION; SPASTICITY; THORAX RADIOGRAPHY;

ABNORMALITIES, MULTIPLE; CORNEAL OPACITY; FATAL OUTCOME; FEMALE; HEART DEFECTS, CONGENITAL; HUMANS; INFANT; MENTAL RETARDATION; MICROCEPHALY; MICROPHTHALMOS; MUSCLE SPASTICITY;

EID: 0035185497     PISSN: 00414301     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (6)

1. Corneal opacity, microphthalmia, mental retardation, microcephaly and generalized muscular spasticity associated with hyperglycinemia
2. Microphthalmos, corneal opacity, mental retardation and spastic cerebral palsy. An oculocerebral syndrome
3. Keratoconus posticus circumscriptus, cleft lip and palate, genitourinary abnormalities, short stature, and mental retardation in sibs
4. X-Linked recessive microencephaly, microphthalmia with corneal opacities, spastic quadriplegia, hypospadias and cryptorchidism
5. Familial spinocerebellar degeneration with corneal dystrophy
6. Spastic paresis, glaucoma and mental retardation a probable autosomal recessive syndrome?