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Biomedical subjects

J M van Doorne

Publications and source records attributed to J M van Doorne.

9 recordsLinked to original sources
PubMed1998

Spinal complications in osteogenesis imperfecta: 47 patients 1-16 years of age.

We examined in a cross-sectional study, 47 children (mean age 7.7 (1-16) years) with osteogenesis imperfecta (OI) to find the prevalence of spinal deformities and to correlate these observations with anthropometry. The associations between dentinogenesis imperfecta, joint hypermobility and spinal deformities were also studied. Disproportion in stature in OI type I and type IV was mainly caused by spinal involvement, as evidenced by a greater decrease in body height than in leg length. In OI type I, the decrease in sitting height was mainly caused by platyspondyly, whereas in OI types III and IV, it was also caused by progressive scoliosis and kyphosis. Scoliosis was present in 22 children, and pathological kyphosis in 18, mainly in the severe OI types. Basilar impression was observed in 10 children, mainly in type III. Children with dentinogenesis imperfecta seemed to be prone to develop scoliosis, pathological kyphosis and basilar impression. Children with generalized joint hypermobility were less prone to develop scoliosis and basilar impression. Our observations may contribute to a better understanding of the risk factors for progressive spinal deformities in OI.

Adolescent↗
PubMed1992

Craniofacial dysostosis, hypertrichosis, genital hypoplasia, ocular, dental, and digital defects: confirmation of the Gorlin-Chaudhry-Moss syndrome.

We report clinical, orofacial and radiological manifestations in a 4-year-old girl and a 33-year-old female with the Gorlin-Chaudhry-Moss (GCM) syndrome. Typical findings in the GCM syndrome are short stature, stocky body build, midface hypoplasia, small eyes, downslanting palpebral fissures, conductive hearing loss, highly arched and narrow palate, malocclusion, abnormally shaped teeth, oligodontia, microdontia, low scalp hairline, hypertrichosis of scalp, face, trunk and limbs and genital hypoplasia. Radiological features include premature synostosis of the coronal suture, brachycephaly, and maxillary under-development. Hypoplasia of the distal phalanges of fingers and toes (also present in the 2 original cases) represents a further manifestation of the GCM syndrome.

Abnormalities, Multiple↗
PubMed1989

[Psychological problems of patients with orofacial cancer].

An insight is presented of the psychological and social problems of patients with orofacial cancer. For most patients the diagnosis of cancer is the same as the idea of dying. The majority of the patients sees only a limited future perspective for themselves. A positive attitude by the family plays an important part in the ultimate acceptance of orofacial mutilation.

Attitude to Health↗
PubMed1988

Martsolf syndrome in a brother and sister: clinical features and pattern of inheritance.

A brother and sister with Martsolf syndrome are reported. The main characteristics of the syndrome are mental retardation, short stature, cataracts, hypogonadism and craniofacial anomalies including microcephaly, maxillary retrusion, pouting mouth, malaligned teeth and mildly dysplastic pinnae. The metacarpal and phalangeal bones are short. The occurrence of Martsolf syndrome in sibs of opposite sex suggests autosomal recessive inheritance.

Abnormalities, Multiple↗
PubMed1984

Roentgencephalometric measurements in trisomy 8 mosaicism: report of three cases.

Roentgencephalometric anomalies in three cases of Warkany syndrome (trisomy 8 mosaicism) are described. These include asymmetry of the mandible with a wide gonial angle and a high and narrow symphysis; SNA (anteroposterior position of maxilla) and SNB (anteroposterior position of mandible) values indicate a backward position of the mandible. Other findings point to a disturbance in the vertical growth of the facial skeleton. These measurements may explain at least part of the facial phenotype and may aid in diagnosis, especially in those cases with an uncertain clinical diagnosis and "normal" karyotype in peripheral blood lymphocytes.

Adult↗
PubMedDate not supplied

Extra-oral prosthetics: past and present.

The field of maxillofacial prosthetics is concerned with the prosthetic reconstruction of missing head and neck tissue. A prosthetic replacement of an exterior part is termed an epithesis. Beautiful examples of such prostheses were described as early as the 17th century. Often these defects were caused by war traumas or accidents. Currently, facial prostheses are usually applied in cases of defects caused by the surgical removal of tumors or congenital defects. Retention of devices has always been problematic. The contributions that implants can make to solve these problems are discussed by examining some cases.

Ear, External↗
PubMedDate not supplied

Facial disfigurement after cancer resection: a problem with an extra dimension.

Treatment of patients with maxillofacial defects includes not only the technical procedures involved in producing a prosthesis, but also the psychosocial aspects. In all cases, these patients must learn to live with a severe facial disfigurement. People born with congenital defects grow up with disfigurement. For cancer patients, in addition to the mutilation, fear of the tumor plays a significant role. This paper reports on research into this specific treatment aspect. Such patients first must learn to cope with the possibility of premature death. They then must learn to accept facial disfigurement and the fact that society will respond differently to them.

Adaptation, Psychological↗