1/8. Raine dysplasia: a Brazilian case with a mild radiological involvement.We report a preterm male infant, the first child of a young consanguineous couple, whose physical examination revealed craniofacial disproportion with microcephaly, wide fontanelles, exophthalmos, low nasal root and hypoplastic nose, long philtrum, small mouth, high arched and narrow palate, micrognathia, dysplastic, low-set and rounded ears, short neck and, arthrogryposis. Postmortem findings included hypoplastic lungs. Radiological examinations showed mild and localized increased of bone density in the cranial vault and skull base and facial bones and undermodelled in the long bones. The above findings are characteristics of Raine dysplasia but the case reported here presents a mild bone involvement with only a localized bone sclerosis and absence of prenatal fractures. We discuss the possibility that this case represents an allelic mutation of the Raine gene. The consanguinity of the parents reinforces the hypothesis of autosomal recessive inheritance for this entity.- - - - - - - - - - ranking = 1keywords = physical examination, physical (Clic here for more details about this article) |
2/8. trisomy 8 syndrome.trisomy 8 syndrome, with or without mosaicism, is characterized by the following clinical signs and symptoms: mental retardation, deformed skull, prominent forehad, high-arched palate, low-set and/or dysplastic ears, long and slender trunk, reduced joint mobility, and deep plantar furrows. The deep furrow or longitudinal crease of the sole may be pathognomonic for the syndrome. It should be noted that it has been seen in other rare syndromes. It is recommended that a child with mental retardation and associated multiple anomalies should be subjected to a cytogenetic study in order to define the incidence of this syndrome. Differnetial diagnosis should include: Fong's syndrome, arthrogryposis and otopalato-digital syndrome. It is interesting to note that there seem to be individuals who have had no physical abnormalities and have been identified during an evaluation for repeated abortions. The above described case of trisomy 8 mosaicism was seen and treated for many years by many different specialists without an accurate diagnosis.- - - - - - - - - - ranking = 0.2228824456601keywords = physical (Clic here for more details about this article) |
3/8. Severe lethal spinal muscular atrophy variant with arthrogryposis.Spinal muscular atrophies are a clinically and genetically heterogeneous group of disorders. Atypical forms of the disease have also been described, including those with associated sensory deficits, hearing loss, cerebellar hypoplasia, congenital heart defects, arthrogryposis, and bone fractures at birth. The patient described here is a male infant, born to a 30-year-old mother at 34 weeks of gestation complicated with polyhydramnios. The first son of consanguineous parents had died with the same clinical features. The patient required ventilatory support because of respiratory failure after the birth and died on day 13. His physical examination revealed profound generalized hypotonia, absence of deep tendon and neonatal reflexes, dysmorphic facies, arthrogryposis, clinodactyly, and left femur fracture. A muscle biopsy revealed variation in fiber size with occasional hypertrophic fibers. The postmortem examination revealed loss and degeneration of anterior horn cells. We propose that the patient, who presented with severe hypotonia, femur fracture, arthrogryposis, dysmorphic features, history of early death of his brother with the same clinical features and parental consanguinity, had probable X-linked spinal muscular atrophy. However, autosomal-recessive inheritance can not be completely excluded.- - - - - - - - - - ranking = 1keywords = physical examination, physical (Clic here for more details about this article) |
4/8. Mitochondrial mutation in a child with distal arthrogryposis.A 15-year-old girl presented with stroke and was found to have a mitochondrial mutation MELAS T3271C. As an infant, she had required casting and surgery for clubbed feet as well as physical therapy for camptodactyly and adducted thumbs. Despite some residual deformities, psychomotor development was normal, but she was extremely small for her age with height, weight, and head circumference below the third centile. A younger brother had similar distal arthrogryposis, but normal height and weight and no history of stroke though he had been diagnosed with attention deficit. The parents and another brother were clinically normal. While the observation of MELAS in a child with distal arthrogryposis could be co-incidental, it raises concern about the possible role of mitochondrial myopathy or neuropathy in causation of distal arthrogryposis.- - - - - - - - - - ranking = 0.2228824456601keywords = physical (Clic here for more details about this article) |
5/8. The knee in arthrogryposis.Of 104 patients with arthrogryposis multiplex congenita treated between 1952 and 1982, 74 had significant knee contractures, instability, or recurvatum. The minimum follow-up period was two years. Nonoperative treatment modalities included physical therapy, bracing, and serial casting in 43 patients (78 knees). Thirty-one other patients (46 knees) had 62 operative procedures, including hamstring and posterior capsular release, epiphysiodesis, distal femoral or proximal tibial osteotomy, arthrodesis, and knee disarticulation. Surgery was reserved for the more resistant causes and was recommended only as part of an overall treatment plan including the correction of foot and hip deformities. The average follow-up period for the surgically treated patients was 11 years, with a range of two to 20 years. recurrence of deformity was frequent, with no one procedure being clearly favored. Physiotherapy alone rarely resulted in clinically significant improvement unless accompanied by prolonged casting and bracing. The most useful surgical procedure in the growing child was posterior capsular release performed in conjunction with hamstring tenotomy. Contractures treated by osteotomies before the completion of growth had a high rate of recurrence.- - - - - - - - - - ranking = 0.2228824456601keywords = physical (Clic here for more details about this article) |
6/8. Enhanced visualization of soft tissues in the study of aborted fetuses through the use of xeroradiography.As part of the diagnostic workup following an episode of fetal loss, it is generally recommended that fetal tissue be submitted for chromosome analysis and that the fetus be photographed and radiographed. Our recent clinical experience has suggested that, in those fetuses where size is compatible, xeroradiography may be superior to standard radiography. xeroradiography utilizes principles similar to those in film radiology, with low-energy photon beams and relatively long exposure times. The physical characteristics of the beam and imaging system provide optimal soft tissue visualization. We have found this technique to be of use in studying a broad variety of abortuses with abnormalities. Examples of fetal abnormalities in which we have used this technique include acardia, neural tube defects, nuchal cystic hygroma, and arthrogryposis. In fetuses weighing 500-1,000 gm, the exposure settings are 25 MA, 1 second, 40 KVP. For larger fetuses the KVP should be increased by 1 or 2. This technique has not been useful for a complete body view of large fetuses due to the size limitations of the xeroradiographic cassette itself.- - - - - - - - - - ranking = 0.2228824456601keywords = physical (Clic here for more details about this article) |
7/8. teratogens associated with congenital contractures in humans and in animals.An evaluation of over 350 patients in a study of congenital contractures of the joints (arthrogryposis) included a review of family, pregnancy, and delivery histories for teratogenic exposures. Fifteen out of the total 350 patients studied had a possible teratogenic exposure: an infectious agent (viral or bacterial), maternal drug or toxin ingestion, chronic maternal neurologic or muscular illness, or a direct physical insult such as a structural uterine anomaly. literature was reviewed for all human and animal cases reported with congenital contractures of the joints with an associated teratogenic insult. Those findings are discussed here.- - - - - - - - - - ranking = 0.2228824456601keywords = physical (Clic here for more details about this article) |
8/8. Distal arthrogryposis type IIB: further clinical delineation and 54-year follow-up of an index case.Distal arthrogryposis IIB is characterized by contractures of the distal joints (especially of the fingers and toes) and ptosis. We recently encountered a father and son with these manifestations. The father was reported 54 years ago as a case of amyoplasia congenita (arthrogryposis multiplex congenita). Both father and son have distal joint contractures, most severe in the hands and feet, as well as ptosis and ophthalmoplegia. In addition, these patients have an unusual distribution of hair loss, and conical teeth. Whether these latter findings are related to the type of distal arthrogryposis present in this family is not known. In spite of their physical limitations both father and son have maintained an active life-style.- - - - - - - - - - ranking = 0.2228824456601keywords = physical (Clic here for more details about this article) |