Tricho-rhino-phalangeal syndrome is probably not so much uncommon as unrecognised. Its significance to orthopaedic surgeons, apart from the functionally unimportant minor finger deformities, lies in its mimicking both Perthes' disease and diaphyseal aclasis. The 14 cases analysed in this paper illustrate the wide range of clinical variation.

The purpose of Occupational, Physical and Music Therapy in the treatment of girls with Rett syndrome is to maintain and maximize function. Specific approaches to the problems of ataxia, spasticity, spinal deformity, loss of ambulation, loss of hand function, loss of contact with the environment, feeding, irritability, and family coping ...

Following the research of Giessen Neurosurgery on primary and secondary lesions of the hypothalamo-pituitary system and the brainstem over a period of more than 30 years, cerebral failure and death does not represent a uniform syndrome but consists of several, well characterized syndromes of irreversible hypothalamo-pituitary, mesencephalic and bulbar failure. ...

The investigation of 110 persons with impaired function of the tympanic nerve revealed 6 persons with bilateral paralysis of the tympanic nerve. Diplegia may be accompanied by a variety of the features of the postdenervational syndrome of the parotid gland. Dissociation of the restitution of animal and vegetative functions, accompanied ...

The study investigated the ability of 10 patients with Asperger's syndrome to recognize and produce non-verbal aspects of facial and spoken (e.g. vocal intonation) communication by use of photographs, audiotape and videotape. It also aimed to establish materials to differentiate individuals with this condition from a comparable non-Asperger group. Asperger ...

The upshoot and downshoot that occurs when the eye is rotated into the adducted position in Duanes retraction syndrome is believed to be related to a taut or leash effect from the lateral rectus muscle. When the eye is adducted, the lateral rectus muscle is believed to "slip" over the ...

Koro, a disorder characterized by complaints of genital hyperinvolution and fear of impending death, is found to be indigenous to certain populations of insular Southeast Asia. Koro is similar to, but nevertheless distinct from, the Chinese syndrome which carries its name and serves as the transcultural prototype; the category of ...

Delirium and dementia frequently pose a diagnostic dilemma for clinicians in the emergency department. The overlap of symptoms between organic brain syndrome and functional psychiatric illness, coupled with a dramatic presentation, often leads to a premature psychiatric diagnosis. In this paper, the authors discuss those symptoms of organic brain syndrome ...

This article explains the relationship between headaches, temporomandibular joint pain dysfunction and the initiating factor, derangement of dental occlusion. A basic understanding of the disease process is outlined along with simple diagnostic aids and a method of treatment. The term 'disturbance of functional occlusion syndrome' (DOFOS), used here for the ...

A three-month-old female presented with the unusual findings of Marcus Gunn Jaw Winking Phenomenon and Duane's Retraction Syndrome in the same eye. In considering suggested etiologies for these two disorders, a misdirection of peripheral innervation would account for both these entities co-existing. In reviewing the ophthalmic literature, the association of ...

Functional asplenia is described in the case report of an 80-year-old woman who was admitted with Sézary syndrome. The spleen could not be visualized by a Tc-99m tin colloid (SnC) liver and spleen scan, but was visualized by a Tc-99m sulfur colloid (SC) scan, suggesting a different mechanism in accumulation ...

Mitral Valve Prolapse Syndrome is one of the most frequent cardiac valvular abnormalities in general population. Mostly the patients remain asymptomatic but a few may suffer from hyperadrenergic panic states, similar to anxiety attacks. In psychiatric practice, a number of physicians have come across this finding during the recent past. ...

Delirium remained a stable psychiatric category until the early 19th century when it underwent aetiological and phenomenological redefinition, precipitating the transformation of the functional insanities into psychoses. Confusion, introduced by French workers during the second half of the century, referred to a syndrome wider than (but including) delirium. It emphasized ...

Bartter's syndrome is a state associated with hyperprostaglandinemia and high urinary excretion of prostaglandin derivatives. Because of numerous reports on prostaglandins acting as local modulators of the immune system, we have studied parameters of phagocytic function and of cellular and humoral immunity in four patients with this disease. An augmentation ...

Evidence from psychophysiological and behavioral investigations of lateralization in psychosis separates two clinical syndromes. A speculative model is offered in which the syndromes approximate the clinical features of paranoid compared with nonparanoid patients in investigations in which the groups have been distinguished in the psychology laboratory (Magaro 1980), and encompass ...

A 9-year-old boy with Duane's retraction syndrome and morning glory syndrome is presented. The right eye showed a grayish-pink optic disc, which had a deep excavation containing a white mass in its center and was surrounded by an annulus of pigment disturbance, i.e., consistent with the features of morning glory ...

This report describes a case of paroxysmal alexia which progressed to a persistent syndrome of alexia without agraphia. The sequence of symptoms beginning with a sensation of eyeball movement followed by blurred vision in the affected eye, alexia and diminished awareness strongly implicates an ictal mechanism. Anatomical, physiological and psychological ...

An adult with long-standing neutropenia had the functional granulocyte abnormalities typical of the lazy leucocyte syndrome. Scanning electron microscopy of the patient's neutrophils showed alteration in the surface configuration of the cell with coarsening of the normal fine ruffles and the appearance of knob-like projections. Similar functional and anatomical changes ...

The mandibular deficiency syndrome is a constellation of abnormalities, including a spectrum of skeletal, neuromuscular, occlusal, and esthetic conditions. The extremes of this syndrome exhibit different skeletal and esthetic morphology and growth patterns. Different orthodontic and surgical approaches must be considered for optimal functional and esthetic correction in the three ...

Endocrine function was evaluated in a 38-year-old man who had patchy asymmetrical acral hypertrophy and giantism. The history and clinical manifestations were consistent with previously described cases of the Klippel-Trenaunay syndrome. Pituitary and peripheral hormone concentrations were generally elevated, but his endocrine status appeared normal by clinical evaluation. Of particular ...

The function of microphages has been studied in vitro in a 5 year-old girl with Papillon-Lefèvre syndrome. The results showed a weakness in chemotatic activity, a defect of intracellular killing of Staphylococcus aureus, and an almost normal phagocytosis but decreased intracellular killing of Candida albicans by the microphages.

An adult female with typical features of Silver-Russell dwarfism gave birth to a viable infant. Despite the abnormalities in sexual development that may be associated with the Silver-Russell syndrome, fertility is not necessarily impaired, at least in females. The growth and development of children with the Silver-Russell syndrome have been ...

Since the initial report by Silver et al (1953), more than 50 examples of the Russell-Silver syndrome have been reported. Unilateral congenital asymmetry of the extremities has been considered one of the major features of this disorder (Silver, 1964). We recently observed a child with otherwise typical features of the ...

The syndrome of detrusor-sphincter dyssynergia is described in a series of patients with a variety of neurological diseases. Bladder function studies using cystometry, sphincter electromyography and electromyelography revealed that sphincter dyssynergia may be associated with detrusor hyperreflexia as well as detrusor areflexia. Impaired function of the pyramidal tracts was documented ...

1. Even from such a small sample as that reported in this study, it is evident that the fractured cusp and cracked-tooth syndrome are common problems. The large number of fractured cusps compared to the cracked-tooth syndrome suggests that some of the cases of fractured cusp could have been diagnosed ...

Five patients presented with signs that were similar to but opposite from Duane's retraction syndrome. Most had a history of orbital trauma. On attempted abduction a narrowing of the palpebral fissure and retraction of the globe was observed. Diplopia with lateral gaze was present. Roentgenograms (polytomograms) showed involvement of the ...

The growth of 39 children with Silver-Russell syndrome has been followed for 1-13 years. Pregnancy and labor were normal; none of the 61 sibs had the syndrome. Height at referral (mean age 4.6 years) averaged 3.6 SD below the mean and remained at this level during subsequent growth. Bone age ...

The thyroid function (T-3 triiodothyronine; T-4 tetraiodothyronine and the captation of the I131 through the thyroid, in 2 and 24 hours after the intake of isotope radium), was studied in patients with Down's syndrome and the results being compared to those obtained from the respective siblings, all clinically normal. The ...

Reduction cystoplasty is a useful procedure to treat a large, poorly functioning bladder in boys with prune belly syndrome who are candidates for urinary tract reconstruction. The technique includes elliptical resection of all anomalous urachal tissue and sufficient detrusor dome to reduce bladder capacity to average size and to create ...

Pendred's syndrome is reported in three siblings. All were euthyroid, with large goitres and deaf mutism and all had an unusual deposition of pigment in the retina. All had raised circulating levels of triiodothyronine (T-3) and an exaggerated response of thyroid-stimulating hormone (TSH) to thyrotrophin-releasing hormone (TRH). It appears that ...

The integrity of the autonomic nervous system was assessed in 11 Parkinsonian patients with symptoms suggestive of autonomic dysfunction. Three had the additional clinical features of the Shy-Drager variant of idiopathic orthostatic hypotension and were found to have a gross disturbance of vasomotor, sudomotor, pilomotor, and bladder function; assessment indicated ...

Piriformis syndrome is a questionable clinical entity that has been cited as a cause of buttock pain and sciatica. The intimate relationship between the piriformis and the sciatic nerve has been suspected as being the source of the signs and symptoms that often appear following minor trauma to the pelvic ...

Ten patients (five males and five females, 8–27 years of age) diagnosed cases of Usher's syndrome were tested for their gustative and olfactory functions. The tasting of these multiple handicapped patients was carried out by elicitation of innate reflex-like distinct facial expressions in response to gustatory and nasal stimulation. Findings ...

A case of true inverse Duane′s retraction syndrome, bilateral inverse globe retraction syndrome apparently due to abnormal innervation, is the subject of this clinical report.

Waardenburg's syndrome consists of lateral displacement of the inner canthi of the eyes (dystopia canthorum), a broad nasal root and confluent eyebrows, heterochromia iridum, a white forelock and congenital deafness. The syndrome is inherited as a dominant, but affected individuals do not necessarily have all of the characteristics cited.Five hundred ...

Thyroidectomy hastens, while gonadectomy delays, but does not permanently prevent, involution of the thymus. Suprarenalectomy alone not only delays involution of the thymus and lymphoid tissue but may cause their regeneration. Thyroidectomy prevents this reaction even after combined suprarenalectomy and gonadectomy. Suprarenalectomy plus gonadectomy is a more powerful stimulus for ...