The Costello syndrome is characterized by prenatally increased growth, postnatal growth
retardation, coarse face, loose skin resembling cutis laxa, nonprogressive cardiomyopathy …

We report on three patients with Costello syndrome and isolated growth hormone (GH)
deficiency treated with biosynthetic GH. To our knowledge, these are the only patients with …

Costello syndrome (CS) is a rare, multiple congenital anomaly syndrome with characteristic
dysmorphic features, cardiac anomalies and a tendency to develop certain cancers …

We report a child with Costello syndrome and Chiari I malformation. The medical literature
has several case reports of findings peculiar for each of these two clinical entities that, when …

Increased paternal age and sporadic occurrence have suggested autosomal dominant de
novo mutations. 3 Recently, several solid tumours have been described in patients with …

We studied a female patient initially diagnosed with Costello syndrome who carries an
apparently balanced translocation, t (1; 22)(q24. 3; q13. 1). Molecular characterization of the …

Costello syndrome shows an autosomal dominant inheritance, typically involving a
heterozygous de novo missense HRAS mutation. In some cases, somatic mosaicism …

Since the 1990s the number of children with disabilities placed within the general education
classroom has steadily increased. Many of these children are provided special education …

The authors describe a girl with Costello syndrome who showed cerebral palsy and
neurosensorial deafness. Brain computer tomography and magnetic resonance findings …

Zusammenfassung Hintergrund Die Exomanalyse ist als Methode zur Identifizierung von
pathogenen Sequenzvarianten bei Patienten mit einem nach den mendelschen Regeln …