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.

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.

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.

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.

A cephalometric study in Rubinstein-Taybi syndrome.

A roentgencephalometric study to compare the facial morphology of 18 individuals affected with Rubinstein-Taybi syndrome and 25 of their parents was performed. The main findings in the affected individuals were shortening of facial height and depth, cranial base length, a marked decrease in size of the mandible, and a steep cranial base. A change with age was found for some dimensions. The pattern variability indices were high, indicating an abnormal craniofacial profile. The correlations between most patients were high, although this was less expressed for the younger patients. The parents had a normal pattern profile and pattern profile variability indices. The correlation between parents and their affected children was low. This study suggests that pattern profile analysis of cephalometric measurements may be a useful diagnostic tool in Rubinstein-Taybi syndrome. However, comparable studies of large groups of patients, especially of a younger age, are needed for further ascertainment of normal values in individuals with Rubinstein-Taybi syndrome at different stages of facial development.

Oral aspects of Rubinstein-Taybi syndrome.

Oral findings in 45 patients with Rubinstein-Taybi syndrome living in The Netherlands are compared with those from the literature. The main non-dental findings were thin upper lip, small oral opening, pouting lower lip, retro/micrognathia, and apparently higher arched, narrow palate. Cleft uvula, cleft palate, or, rarely, cleft upper lip can be part of the syndrome. Timing of the eruption of deciduous and permanent dentition is normal. Sixty-two percent of patients have malpositioned, crowded teeth. Marked caries was found in 36% and was possibly caused by problems in dental care due to the small opening of the mouth, malposition and malformation of the teeth, and non-cooperation of the patients. Hypodontia, hyperdontia, and natal teeth can be manifestations of the syndrome. In 73% of all patients and in 92% of all permanent dentitions, talon cusps were found. Two or more talon cusps are rarely found in the normal population or other syndromes. Therefore, this finding strongly supports the diagnosis of Rubinstein-Taybi syndrome in patients in whom this diagnosis is suspected.

[Psychological problems of patients with orofacial cancer]. / Mondkanker, een psychosociaal probleem.

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.

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.

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.