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Biomedical subjects

G Sorge

Publications and source records attributed to G Sorge.

12 recordsLinked to original sources
PubMed1991

Patient with multiple congenital anomalies and decreased production and processing of procollagen in cultured fibroblasts.

We report on a patient with hip and elbow dislocations, joint hyperextensibility, peculiar facial appearance, torticollis, cryptorchidism, unilateral hexadactyly, and other minor anomalies. Cultured cells from this patient produce less type I procollagen and have a slower rate of processing of type I procollagen to collagen in the culture medium. We think that the pattern of clinical anomalies constitutes a previously unreported syndrome with type I procollagen defect as a manifestation of the syndrome.

Abnormalities, Multiple↗
PubMed1990

Seizures in patients with trisomy 21.

We report on the incidence of seizures in 113 patients with Down Syndrome (DS), 43 coming from the OASI Institute for Research on Mental Retardation and Brain Aging, Troina, and 70 from the outpatient clinic of the Department of Pediatrics, University of Catania. We obtained the following results: 15 (13.2%) patients had seizures; 6 (5.3%) febrile seizures (FS) and 9 (7.9%) afebrile seizures (aFS). Among the latter group 2 patients had generalized tonic-clonic seizures, 3 partial complex seizures, and 4 infantile spasms. The seizures appeared early in life. Only 2 adult patients had seizures. These results suggest that patients with DS show a higher incidence of FS and of aFS than non-DS individuals. Seizures in DS may be an epiphenomenon of the neurological abnormalities, both anatomical and functional, usually observed in these patients.

Adult↗
PubMed1989

A case of the Freire-Maia Odontotrichomelic syndrome: nosology with EEC syndrome.

We report on a patient, born to consanguineous parents, who had a complex malformation syndrome of severe upper limbs anomalies, peculiar face, structural ear anomalies, nasolacrimal duct obstruction, and abnormal hair and nails. We think that the clinical manifestations of the patient are similar to those described by Freire-Maia as the odontotrichomelic syndrome; the differential diagnosis between this syndrome and ectrodactyly, ectodermal dysplasia, and cleft/lip palate (EEC) syndrome is discussed.

Abnormalities, Multiple↗
PubMed1989

CFC syndrome: report on three additional cases.

We describe three patients, originating from three different Italian localities, affected by the cardio-facio-cutaneous (CFC) syndrome. In addition to a varying degree of mental retardation, these patients present characteristics consisting of a peculiar face with bitemporal frontal constriction and other anomalies involving the eyes, nose, ears, hair, skin, and heart that are consistent with this diagnosis.

Abnormalities, Multiple↗
PubMed1989

Inv(8)(p23q22) and recombinant derivative in a Sicilian family.

A family with inv8(p23q22), in which one girl with a derivative chromosome 8 showed the characteristic phenotype, is reported. Our case differs from the 32 known families with inv8(p23q22), being the first of apparently non-Hispanic descent. The anomaly may, however, have its origins in the Spanish domination of Sicily.

Abnormalities, Multiple↗
PubMed1978

Autosomal recessive postaxial polydactyly type A in a Sicilian family.

Postaxial polydactyly type A was present in several members of a Sicilian family. The anomaly was probably transmitted as an autosomal recessive character. Two polydactylous subjects were also beta-thalassaemia carriers, but a linkage between the two mutant genes could be excluded. Two patients with hexadactyly had a fifth digital triradius.

Adult↗
PubMed1977

Trisomy 22 mosaicism.

A child with many symptoms of trisomy 22 syndrome is described. The child showed a 46,XY/47,XY,+22 chromosome constitution. This is the first reported case of a trisome 22 phenotype with such a mosaic karyotype.

Abnormalities, Multiple↗