Gene symbol: GJA1. Disease: oculodentodigital dysplasia.
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Abnormalities, Multiple↗
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Yunis-Varon syndrome.
Yunis-Varon syndrome is a rare, autosomal recessive syndrome characterized by growth retardation, defective growth of the cranial bones along with complete or partial absence of the clavicles (cleidocranial dysplasia), characteristic facial features, and/or abnormalities of the fingers and/or toes.
Abnormalities, Multiple↗
A study of causes of unemployment among agricultural labourers afflicted by leprosy.
116 patients consisting of 54 males and 62 females, all engaged in agriculture were interviewed to find out the cause of their unemployment. Deformity seemed to be the major factor responsible for the loss of job among them, which was prevalent among advanced age group (Males--50, Females--53.5). Since the measures to rehabilitate them are rather difficult, it is essential to educate them on the methods of prevention of deformities and their importance. If not, they invariably loose their job at an age when they cannot train themselves for a suitable alternative job to earn their livelihood.
Adult↗
Terminal 2q37 deletion and autistic behaviour.
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Abnormalities, Multiple↗
Acrocallosal syndrome in a child with de novo inverted tandem duplication of 12p11.2-p13.3.
Report on the child of normal unrelated parents presenting the typical features of acrocallosal syndrome (craniofacial dysmorphy, mental deficiency, convulsive disorder, agenesis of corpus callosum, preaxial polydactyly "hallux duplex" of both feet, and in addition diabetes insipidus) in which a mirror duplication of nearly the entire short arm of chromosome 12 was discovered. Since the symptomatology of trisomy and tetrasomy 12p shows some overlap with acrocallosal syndrome a common origin of the monogenic disorder and the chromosomal phenotypes is discussed.
Abnormalities, Multiple↗
Catel-Manzke digitopalatal syndrome or Temtamy preaxial brachydactyly hyperphalangism syndrome?
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Abnormalities, Multiple↗
Making the burned hand functional.
The goal of treatment of the burned hand is to make the hand functional at the conclusion of treatment. Function should ideally include both fine pinch and power grip but will ultimately be determined by the individual patient's needs. At no time, however, can the care of the burned hand be performed in a vacuum, losing sight of the patient as a whole. It must also be remembered that the hand functions as part of the upper extremity. Full hand motion is useless if significant contractures of the elbow or axilla prevent the patient from positioning the hand so that this motion can be utilized. Rehabilitation must render the entire extremity functional. Thus, it becomes obvious that a team effort is mandatory. This usually will include the following individuals: physician, nurse, occupational therapist, physical therapist, vocational rehabilitation counselor, and social worker. A functional upper extremity means that the goal must be to return patients to their preburn vocations and avocations. A clear understanding of job requirements and work habits will allow realistic goals to be established. However, when the goal of optimal function cannot be reached, early retraining will help to obtain optimal rehabilitation.
Acute Disease↗
Smith-Lemli-Opitz syndrome: the changing phenotype with age.
In this report we present follow up data of two brothers with Smith-Lemli-Opitz syndrome. The changes with ageing are striking and few of the typical SLO traits are still present, which makes it extremely difficult to make the diagnosis Smith-Lemli-Opitz syndrome at adult age.
Abnormalities, Multiple↗
[Rheumatoid arthritis: a general disease and local diseases].
The rheumatoid synovitis affects the joints by destroying the cartilage, the sub-chondral bone and the articular capsule. The tendons and ligaments can be degraded by proximity or by the means of the affected synovial sheaths. This conjunction of effects involves a foreseeable degradation on the complex articulations whose clinician must know the stages to interfere effectively into a preventive way by local interventions when the general treatments of the disease are insufficient and before recourse to the repairing surgery. This management can only be considered with a team where the general practitioner has a central place of alarm. Extraarticular symptoms (Sjogren's syndrome, cardiac, pulmonary or renal involvement) are specific local diseases and should be managed appropriately by the general practitioner and referred specialists.
Adult↗
Anomalies of the fingers and toes associated with Klippel-Trenaunay syndrome.
Klippel-Trenaunay syndrome is a rare congenital malformation characterized by a large angiomatous nevus; hypertrophy of soft tissue or overgrowth of bone, or both; and venous varicosities. The cases of 108 patients who had a diagnosis of this syndrome between 1956 and 1990 were reviewed. One hundred and twenty-six anomalies were found in twenty-nine patients, each of whom had one to thirteen malformations of the fingers or toes, or both. The ratio of female patients to male patients was approximately two to one. Twenty-six patients had macrodactyly affecting one to six digits; nine, syndactyly involving two or more digits; five, metatarsus primus varus; two, clinodacytly; two, polydactyly; one, camptodactyly; and one, a congenital trigger finger. Thirty-three of the 126 anomalies were in extremities that had no nevi, varicose veins, or generalized hypertrophy.
Adolescent↗
[Conjugal leprosy].
OBJECTIVES: Determining the occurrence of leprosy amongst couples and establishing the type of leprosy in index and secondary cases. METHODS: The characteristics of leprosy were studied between 1980 and 2000 in Atlántico Department located on the Colombian Caribbean Coast. Clinical histories of patients registered in the Leprosy Control Programme were reviewed. Clinical exams were performed and personal interviews carried out with couples suffering from leprosy. RESULTS: Twenty-six married couples were found to be suffering from leprosy, representing 5.4% of leprosy cases detected during the study period. They were aged from 20 to 89. 65.4% of the index cases were men and 22 (84.6%) were multibacillary, lepromatous cases; two had indeterminate leprosy and two were suffering from tuberculoid leprosy. Sixty-one percent of the secondary cases were paucibacillary patients, 42% of them being tuberculoid. No paucibacillary cases were associated with multibacillary leprosy in the couples. Only two couples had consanguinity. None of the couples had had leprosy at the time of being married. The time between leprosy being detected in index cases and the disease being detected in secondary patients varied from 5 to 40 years. Disabilities were more common in the feet and to a higher degree in lepromatous index cases who had had the disease for a longer time than the secondary cases because these were more frequently paucibacillary patients who had a disease having shorter evolution. CONCLUSIONS: In spite of ongoing, prolonged contact, conjugal leprosy is not frequent and requires several years to develop in the second person. Lepromatous leprosy in index cases was more frequently associated with leprosy in the couple. When the primary case was paucibacillary, no multibacillary leprosy occurred in the secondary case.
Adult↗
Use of the distraction method in hand surgery.
The author describes three prototypes of a miniature distractor for the bones of hand constructed according to his own design, and its uses in clinical practice. The distractors are used for lengthening bones of the hand after injuries involving loss of the thumb or fingers, and for the treatment of patients with congenital developmental defects of the hand. Over a period of three years, the distractors were used in thirteen cases and Ilizarov's original apparatus in three cases: for the lengthening of metacarpus I in seven cases, metacarpus II in two cases, metacarpi II-IV in one case, metacarpi II-V also in one case. Similarly, in one case each for the elongation of the proximal and medial phalanges of fingers. A lengthening of 3.5 to 3.7 was achieved. Ilizarov's apparatus was exploited in two cases to lengthen the bone of the forearm for congenital hypoplasia of the radius and ulna, and for metatarsal bone lengthening in a case of congenital aplasia of the toes and hypoplasia of the remaining bones of the foot. In the last three cases a lengthening of 10 cm was achieved.
Adolescent↗
Dorsal thumb flap for release of adduction contracture of the first web space.
A local flap, utilizing the skin over the dorsum of the thumb, for release of a first web space contracture has been described. Its construction allows for full integumentary release, adequate visualization of underlying contracted tissues, and a closure that provides full thickness sensory skin coverage over the entire web space and key pinch contact area.
Aged↗
[Application of pedicled anterolateral thigh flap transferring for coverage of oversized skin defect of hand].
OBJECTIVE: To introduce the application of the pedicled anterolateral thigh flap transferring for coverage of the oversized skin defect of the hand. METHODS: The pedicled anterolateral thigh flap was transferred to cover the large skin defects of the hands or the skin defects of the abdomen after the abdominal flap transferred to the hand in 5 male patients aged 16-44 years from April 2002 to August 2005. The injured sites were as follows:4 right hands and 1 left hand, including 2 hands injured by a machine and 3 hands injured by burning. The mechanically injured patients underwent an operation within 6 hours after the injury. The burned patients were reconstructed by the flap transferring 4-7 days after the burn when the decayed tissues could be clearly indentified. The areas of the hand defects were 12-19 cm x 18-22 cm. The areas of the pedicled anterolateral thigh flaps were 7-12 cm x 16-24 cm. The areas of the abdominal flaps were 13-20 cm x 19-23 cm. The pedicles were separated 3 weeks after the repairing operation. RESULTS: All the flaps survived well and there was no vascular crisis, with the wound healing of the first intention. The skin defects of the hand were covered completely. Five patients were followed up for 6-12 months. The texture of the flaps was soft and the flaps had a good blood circulation. Of the patients, 3 underwent the finger exclusion and degreasing operation 4-7 months after operation. All the flaps of the hands had protective sensation, which could meet the requirement of the daily life. CONCLUSION: The pedicled anterolateral thigh flap can provide the large coverage for the skin defects of the hands. The risk of the operation can be greatly decreased by obviation of the vessel anastomosis. It can be an optimal choice for the management of the oversized skin defects of the hands.
Adolescent↗
[Fryns syndrome--pre and postnatal diagnosis].
Fryns, in 1979, delineated an autosomal recessive lethal syndrome of multiple congenital malformations, including diaphragmatic defect, craniofacial anomalies and distal limb hypoplasia. So far, 33 cases of Fryns syndrome have been published. We here report the fourth case of Fryns syndrome with consanguinous parents. It was the second child of healthy Turkish parents (first cousins). Pregnancy was complicated by massive polyhydramnios since week 32. Imperforate anus and diaphragmatic defect was detected by ultrasound. Spontaneous delivery occurred in week 37, the child died 5 hrs after birth. Major symptoms were a partial aplasia of the left diaphragm, coarse facies, absent nails of the fifth fingers and fifth toes, VSD, imperforate anus and cerebellar heterotopia. We discuss, in the context of our observation and of the reports in the literature, the possible heterogeneity of Fryns syndrome and the possibility of prenatal diagnosis.
Abnormalities, Multiple↗
[Split hand/foot abnormalities: classification, pathogenesis, epidemiology].
Authors report on the genetic epidemiologic investigation of one of the sentinel anomalies made on purpose to define the birth prevalence of the different types of it, to calculate the mutation rate of autosomal dominant forms as well as to recognize the clinical features of Hungarian cases. 58% of all cases registered in the Hungarian Congenital Abnormality Registry in 1975-1984 proved to be atypical. The birth prevalence of autosomal dominant forms was 1.33/100.000 total birth. 71% of dominant forms was sporadic since 29% was familial. Thus the mutation rate was estimated 4.7 x 10(-6) +/- 1.22 x 10(-6).
Female↗
[Ischemic contracture of the forearm and hand. Staging and indications for surgical treatment].
Results of long-term follow up of 66 patients with ischemic contracture of the forearm and hand, all surgically treated in the "Unfallkrankenhaus Hamburg)) between 1961 and 1982, are presented. Whereas ischemic contracture of the forearm flexors resulted mainly from fractures, ischemic contracture of the intrinsic muscles of the hand was most often seen after pressure injuries. All patients in this study presented to us with fully established ischemic contractures. Muscle and nerve damage was retrospectively evaluated according to operative notes, and the degree of damage could be classified into four groups. Most frequently, neurolysis, scar excision and muscle-sliding operations were performed; furthermore, tendon lengthening, tendon transpositions, wrist arthrodesis and nerve grafting were indicated. Results were judged according to twelve separately measured functions, each measurement giving a possible score of three to six points. Muscle-sliding operations result in an improved score regardless of ischemic contracture stage. For a stage 2 contracture, a 20 point improvement can be expected. In stage 1 contracture--presenting with extension deficiency of four or more points--, complete recovery can be expected following a muscle-sliding operation. For isolated muscle injuries, tendon lengthening is recommended. For stage 2 contracture, the transposition of superficial to deep flexor tendons results in the same score as a muscle-sliding operation; however, the transposition procedure should be reserved for special indications. In stage 3 contracture, the muscle-sliding operation is the treatment of choice, with secondary procedures such as tendon transpositions and nerve grafts often being necessary. In stage 4 ischemic contracture, muscle-sliding operations may improve extension deficiency; however, wrist arthrodesis, especially in combination with extensor tendon transpositions, may be beneficial. No experience with free muscle transplantation was made during the study period.
Adolescent↗