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Biomedical subjects

G Camera

Publications and source records attributed to G Camera.

At least 73 records · Page 4Linked to original sources
PubMedDate not supplied

[Single maxillary central incisor and holoprosencephaly].

A holoprosencephalic female was born to a mother with a single central maxillary incisor. The newborn had microcephaly, hypotelorism, cebocephaly, palatoschisis, micrognathia, and normal chromosomes. Her brain computed tomography showed alobar holoprosencephaly. The mother was of normal intelligence and stature, and her brain computed tomography was normal. Other relatives did not have single central maxillary incisors, hypotelorism, or oral clefts. We show a further evidence of a single central maxillary incisor as an indicator of potential holoprosencephaly in the next generation, confirming an autosomal dominant trait with wide variety in penetrance and expressivity.

Adult↗
PubMedDate not supplied

[Dental abnormalities in cleidocranial dysplasia. Presentation of 4 cases].

Four patients, three in the same family, with cleidocranial dysplasia, are reported. The birth of a male newborn with cleidocranial dysplasia has allowed to investigate his mother and grandmother with the same condition. An other 30-year-old patient with cleidocranial dysplasia is described. All the adult patients showed the main clinical manifestations of the disease with the peculiar abnormalities of the dentition.

Adult↗
PubMedDate not supplied

[Prenatal diagnosis of hydrolethalus (Salonen-Herva-Norio syndrome) in a woman with unknown risk: presentation of a case with long survival].

A female infant with hydrolethalus (Salonen-Herva-Norio) syndrome, an autosomal recessive disorder, is reported. This condition was suspected at 26 weeks of gestation by fetal ultrasonographic examination. The pregnancy was complicated by polyhydramnios. The newborn showed hydrocephalus, occipital encephalocele, micrognathia, interventricular defect, hallucal duplication. The patient died at age 5 months and 11 days.

Abnormalities, Multiple↗
PubMedDate not supplied

[Pterygium of the elbow and post-axial polydactyly on the hands as sign of hereditary onyco-osteodysplasia: 4 familial cases].

Four familial cases of HOOD syndrome are reported. A female newborn showed at birth dysplastic thumb-nails, small nails with triangular lunulae, post-axial polydactylyl at left hand, and hypoplasia of the patella. The mother and the mother's brother showed onycodysplasia, hypoplastic dislocated patella, joint contractures, iliac horns, bilateral post-axial polydactyly on the hand and antecubital pterygium. The patient's sister, born to another man, showed onico-osteo dysplasia without pterygium and polydactyly. The variable expressivity of the HODD syndrome and its association with polydactyly, pterygium and nephropathy are discussed.

Adult↗
PubMedDate not supplied

[Pseudoachondrodysplasia (pseudoachondroplastic spondyloepiphyseal dysplasia). Description of 2 non-familial cases].

Two non familial cases of pseudoachondroplasia are reported. The patients, observed at 4 years and 6 months and 5 years respectively, show short-limb dwarfism with disproportionated long trunk and with normal head and face. Flattening of vertebral bodies with biconvex deformity and short tubular bones with irregular epiphyses and metaphyses are the major radiographic features. In these patients to state the type of genetic transmission is very arduous, as the genetic heterogeneity of the pseudoachondroplasia.

Achondroplasia↗
PubMedDate not supplied

[Osteopetrosis: description of 2 cases, non-familial, of the fatal infantile form and of a case of the mild adult form. Impossibility of performing early prenatal diagnosis].

Two non familial cases of the juvenile lethal form of osteopetrosis and one case of the mild adult type are reported. In one case at risk of lethal osteopetrosis an early prenatal diagnosis was attempted, after informing the parents about the extreme difficulty to obtain conclusive results by such investigation. Although several ultrasonographic and one radiological examinations showed an apparently normal foetus, the newborn was affected by the lethal form of osteopetrosis.

Child↗