Progressive vitiligo, mental retardation, facial dysmorphism, and urethral duplication without chromosomal breakage or immunodeficiency.

Congenital disorders of glycosylation IIa cause growth retardation, mental retardation, and facial dysmorphism.

EDITOR—Congenital disorders of glycosylation (CDG) are a heterogeneous group of autosomal recessive multisystemic conditions causing severe central nervous system and multivisceral disorders resulting from impairment of the glycosylation pathway. Two disease causing mechanisms have been identified so far. CDG I is caused by a defect in the assembly of the dolicholpyrophosphate oligosaccharide p...

A novel form of syndromic cutis laxa with facial dysmorphism, cleft palate, and mental retardation.

Aortic Disorders, Facial Dysmorphism and Mental Retardation: Clinical Featu- Res and Genetic Conditions

Objectives: The aim of the present article is to describe the clinical features and genetic conditions of the clinical syndromes/association characterized by facial dysmorphism, mental retardation, and aortic dilation, and compare with those of the syndromes with facial dysmorphism, mental retardation, and aortic stenosis. Methods: International literature of the syndromes characterized by faci...

A chromosomal breakage syndrome with profound immunodeficiency.

The chromosomal breakage syndromes--ataxia-telangiectasia, Fanconi's anemia, and Bloom's syndrome--are associated with growth failure, neurologic abnormalities, immunodeficiency, and an increased incidence of malignancy. The relationship between these features is unknown. We recently evaluated a 21-year-old female with more severe chromosomal breakage, immunodeficiency, and growth failure than ...

"Idiopathic" mental retardation and new chromosomal abnormalities

Mental retardation is a heterogeneous condition, affecting 1-3% of general population. In the last few years, several emerging clinical entities have been described, due to the advent of newest genetic techniques, such as array Comparative Genomic Hybridization. The detection of cryptic microdeletion/microduplication abnormalities has allowed genotype-phenotype correlations, delineating recogni...