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

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

Congenital Cutis laxa associated with growth retardation.

Congenital cutis laxa is a rare, clinically and genetically heterogeneous group of inherited disorders. It is characterized by degenerative changes in elastic fibres and manifests with skin laxity. Here we presented a six-month old boy with congenital cutis laxa associated with growth retardation. We reveal ultrastructural findings and discussed the differential diagnosis.

Congenital cutis laxa with retardation of growth and development.

Seven patients with congenital cutis laxa are presented. The associated features include developmental delay, joint laxity, wide anterior fontanelle, growth retardation, dental caries, and osteopenia. The heterogeneity and inheritance of congenital cutis laxa are discussed. This particular syndrome appears distinct and is likely to be autosomal recessive in view of the two brother-sister sib pa...

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...

Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate.

Truncating mutations were found in the PHF8 gene (encoding the PHD finger protein 8) in two unrelated families with X linked mental retardation (XLMR) associated with cleft lip/palate (MIM 300263). Expression studies showed that this gene is ubiquitously transcribed, with strong expression of the mouse orthologue Phf8 in embryonic and adult brain structures. The coded PHF8 protein harbours two ...