Is the locus for Costello syndrome on 11p?

Costello syndrome.

Costello syndrome is a rare, distinctive, multiple congenital anomaly syndrome, characterized by soft, loose skin with deep palmar and plantar creases, loose joints, distinctive coarse facial features and skeletal and cardiac abnormalities. The affected patients have a predisposition to develop malignancy, developmental delays and mental retardation. Recently, a 7-year-old male child born to no...

Studies on the pathogenesis of Costello syndrome.

Costello syndrome is characterised by high birth weight, early psychomotor and growth retardation, cardiomyopathy, relative macrocephaly, coarse face, and laxity of the small joints. Skin abnormalities include nasal and perianal papillomata, acanthosis nigricans, cutis laxa, and curly and sparse scalp hair. 2 Increased paternal age and sporadic occurrence have suggested autosomal dominant de no...

Anaesthetic Management in Costello Syndrome.

Costello syndrome is a rare genetic disorder characterised by growth and mental retardation, macrocephaly, short neck and macroglossia. Cardiac involvement can also occur in Costello syndrome and is presented in the form of hypertrophic cardiomyopathy, tachyarrythmias and valvular dysfunction. Nervous system involvement including ventriculomegaly, hydrocephaly and Chiari type 1 malformation are...

Is growth hormone treatment beneficial or harmful in Costello syndrome?

Costello syndrome (CS) was first described by Costello in two unrelated children, in 1971 and 1977. The major manifestations of CS have been summarised as postnatal growth deficiency, developmental delay, relative macrocephaly, coarse face, thick ears, thick lips, depressed nasal bridge with anteverted nares, excess skin, thick palms and soles, short neck, curly hair, nasal papillomata, and soc...

Cutis laxa and the Costello syndrome.