Gurrieri Syndrome

Clinical Features

Gurrieri et al. (1992) reported the cases of 4 Italian sibs with a previously undescribed constellation of manifestations: moderate to severe mental retardation, seizures, short stature, and skeletal abnormalities.

Battaglia et al. (1996) described a male with severe mental retardation, epilepsy, short stature, and skeletal dysplasia. The short stature, probably postnatal, was associated with hypoplastic iliac alae, hypoplastic acetabula, decreased anterioposterior diameter of the lumbar vertebral bodies (often seen as a nonspecific finding in patients who spend much time in bed), and retarded bone age. Battaglia and Gurrieri (1999) found that the patient of Battaglia et al. (1996) showed absence of the maternal allele of proximal 15q consistent with the diagnosis of Angelman syndrome (105830). Studies of 2 of the 4 originally reported sibs (Gurrieri et al., 1992) showed no abnormalities of 15q.

Orrico et al. (1999) described 2 sibs, a brother and sister, with features suggesting Gurrieri syndrome but with some new features that were thought to expand the clinical spectrum of the disorder. They showed severe growth and mental retardation, seizures, retinal abnormalities, osteodysplasia, brachydactyly, prognathism, and dental malocclusion. The observations were thought to confirm autosomal recessive inheritance.