Stevenson-Carey Syndrome

Clinical Features

Stevenson and Carey (2007) described 2 sisters with a multiple congenital anomaly syndrome with mental retardation, Pierre-Robin sequence, and cerebellar hypoplasia. Both sisters had similar craniofacial features including coloboma, microphthalmia, downslanting palpebral fissures, anteverted nares, small mouth with down-turned corners, and Pierre-Robin sequence with cleft palate. Echocardiograms revealed left superior vena cava draining into the coronary sinus. The younger sister also had an atrial septal defect. Skeletal features included camptodactyly of the fingers with the index fingers overlying the third fingers and congenital hip dysplasia. MRIs of both girls demonstrated hypoplastic corpus callosum, enlarged cisterna magna, and cerebellar hypoplasia. Both had significant developmental delay and seizures. Stevenson and Carey (2007) noted phenotypic overlap with the Ritscher-Schinzel (220210) and Toriello-Carey (217980) syndromes but concluded that the distinct pattern of malformations represented a provisionally unique syndrome.

Craft et al. (2010) reported 2 sibs, a girl and a boy, born of consanguineous Pakistani parents, with features reminiscent of 3C syndrome. Both had delayed psychomotor development and dysmorphic facial features, including downslanting palpebral fissures, prominent nasal bridge, micrognathia, and small head size. Both patients and an otherwise unaffected sister had flexion contractures of the fingers; the affected sister also had flexion contractures of the large joints and scoliosis. The affected sister had marked cerebellar vermis hypoplasia, ventricular septal defect, and mitral valve stenosis, but the affected brother did not have cardiac defect or abnormal findings on brain MRI. Neither had cleft palate/Robin sequence. Craft et al. (2010) noted that there is phenotypic variability in 3C syndrome, but also suggested some overlap with the phenotype in the 2 sisters reported by Stevenson and Carey (2007).

Inheritance

Stevenson and Carey (2007) stated that inheritance was likely autosomal recessive, but parental mosaicism could not be excluded.