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At least 19 recordsLinked to original sources
PubMed1976

[Distal symphalangia with humeroradial synostosis, carpal synostosis and brachyphalangia of the thumb. A dominant syndrome (author's transl)].

In a family with genetically dominant joint aplasia, 12 of the 27 involved members in four generations had bilateral humeroradial synostoses; the rest, ventral luxation of the radius. In addition, various degrees of malformations and aplasia of the carpal, tarsal and interphalangeal joints as well as shortening of the proximal phalanx of the thumb were observed. All other similar cases described in the available literature differ significantly from those described here.

Abnormalities, Multiple↗
PubMed1977

Craniosynostosis. II. Coronal synostosis: its familial characteristics and associated clinical findings in 109 patients lacking bilateral polysyndactyly or syndactyly.

This paper is the second part of a survey of 370 patients with craniosynostosis. It concerns 109 patients with coronal synostosis, with or without additional suture involvement who lacked polysyndactyly or syndactyly. Bilateral and unilateral coronal synostosis occurred with approximately equal frequency and there was an excess of males in both groups. Multiple suture involvements was frequent in patients with bilateral synostosis, but was uncommon in those with unilateral involvement. Those patients with bilateral synostosis and additional suture involvement were treated later than those with isolated bilateral synostosis and a possible explanation for this finding is discussed. Forty-seven percent of patients with bilateral synostosis had additional major malformations. Cardiac malformations were significantly more frequent than would be expected by chance. Thirty-five percent of patients with unilateral involvement had major malformations. Twenty-six percent of those with bilateral and ten percent of those with unilateral synostosis were mentally retarded, but retardation was found to be associated either with increased frequency of major malformations or with a complex medical history. Mental retardation is uncommon in simple, uncomplicated coronal synostosis. Twelve of the 104 families showed a positive family history; nine with vertical and three with horizontal transmission. An admixture of unilateral and bilateral suture involvement was the rule, and families with involvement limited to unilateral synostosis did not occur. Certain patterns of characteristic familial minor malformation, particularly of the hands, allow recognition of a number of these familial cases. The recurrence risks for coronal synostosis are discussed.

Abnormalities, Multiple↗
PubMed1976

Craniosynostosis. I. Sagittal synostosis: its genetics and associated clinical findings in 214 patients who lacked involvement of the coronal suture(s).

The clinical and genetic findings in 214 patients with sagittal synostosis are described. Seventy-three per cent of the patients were male. Children with sagittal synostosis were treated earlier than those with coronal synostosis. Major malformations occurred in 22%, and 8.9% were mentally retarded. The retardation was clearly unrelated to the synostosis in almost half the patients. The remaining retarded patients had a significantly lower mean birth weight, higher frequency of malformations, and later age at operation than the control group. We believe the late age at operation was due to bias in the ascertainment of this group of retarded children, and that sagittal synostosis was simply one of a number of malformations that can occur in children with intrinsic retardation. Familial data and the skull measurements of a sample of parents of affected children were compatible with multifactorial inheritance; however there is need for prospective family studies and parental measurements on ethnically uniform groups.

Adolescent↗
PubMed1975

Functional anatomy of cranial synostosis.

An understanding of how sutural growth processes relate to the totality of cranial growth is necessary to cure the cause and not just the symptoms of cranial synostosis. There is no direct genetic determination for the origin, growth, size, shape or maintenance of bones. Rather, phenotypic expression of skeletal tissues is regulated via genetic information encoded in the cells of functional matrices. The primary morphogenetic event in neurocranial growth is the volumetric expansion of the neural mass, which causes the surrounding neurocranial capsule to expand. Calvarial bones arise at widely separated ossification centers and spread centrifugally towards each other. Premature synostosis of the human metopic suture was noted as a frequent characteristic of the cleft-palate skull. Primary morphological event associated with premature synostosis was a cranial base malformation. Cranial sutures permit passage of the neonatal head through the birth canal, permit slight relative variations between adjacent bones while keeping these same bones relatively approximated. All morphological attributes of carnial bones and of their sutures are extrinsically determined and regulated, including both the normal and premature synostosis of the cranial sutures. It seems reasonable to the author that premature synostosis originates in the early embryonic prosencephalic head organizer, which makes it developmentally understandable.

Animals↗
PubMedDate not supplied

Tibiofibular synostosis and recurrent ankle sprains in high performance athletes.

Recent evidence points toward a weight bearing and dynamic stabilizing function of the distal fibula in ankle joint mechanics. When fibular rotation and translation are restricted, ankle pain during weight bearing and push off often (but not always) results. The case histories of six professional athletes with distal tibial synostosis resulting from internal rotation-inversion injury confirm recent reports of ankle disability resulting from restriction of fibular motion, but suggest that there may be many patients with this lesion who are not disabled. Two patients with incomplete synostosis were asymptomatic, and one with complete synostosis had only occasional pain after vigorous exercise.

Adult↗
PubMed1979

Congenital radio-ulnar synostosis: surgical treatment.

The results of an operative approach to the problem of radio-ulnar synostosis were assessed in thirteen patients, ten to twenty-five and one-half years after the procedure was performed. We concluded that in a patient with bilateral synostosis one hand, the one not used in writing, should be shifted to a position of 20 to 35 degrees of supination. With one hand in this position, the other may be left in considerable pronation. Often after such a shift it is not necessary to rotate the second arm. However, if the pronation is marked in the second forearm, and if function is impaired unduly by this position, surgical correction is indicated. The arm should be placed in a position of 30 to 45 degrees of pronation. In unilateral radio-unlar synostosis, the ordinarily ideal position of the radius is between 10 and 20 degrees of supination. In an adult, the patient's occupation should be considered in deciding on the rotatory positions of the forearms. We usually prefer a method of transverse osteotomy through the conjoined mass of the radius and ulna. Careful observation of the effect on the vascular status of the limb during and immediately after surgery is important.

Adolescent↗
PubMedDate not supplied

Congenital radio-humeral synostosis. A case report.

In a 7-month-old male infant with congenital radiohumeral synostosis and associated absent first metacarpal, floating thumb, and hypoplasia of the humerus, the synostosis was resected. Elbow motion was obtained and one year postoperatively there was no recurrence of the synostosis.

Abnormalities, Multiple↗
PubMed1978

Proximal tibiofibular synostosis.

The occurrence of a proximal tibiofibular synostosis is indeed a rare condition with only 2 cases unassociated with other diseases reported to our knowledge to date. Two skeletally immature patients presented with a synostosis of the proximal tibiofibular region associated with shortening of the limb in the affected segments. Although the shortening and the synostosis seem interrelated no explanation of their relationship is evident from these 2 cases.

Child↗
PubMedDate not supplied

[Congenital radio-ulnar synostosis of children (author's transl)].

29 congenital radio-ulnar synostosis have been observed in 16 childrens. The authors review the clinical patterns of this affection: most often bilateral, it results in impossibility of pronosupination of the wrist which has but little functional consequence, if the hand is in an intermediary position. On the X-ray its almost always a superior radio-ulnar synostosis but the inferior radio-ulnar joint is abnormal and non functional. Only the children severely handicapped by a hand fixed in pronation should be operated upon. No good result can be hoped from a surgery that tries to restore pro-supination. The best surgical technique seems to be a simple horizontal osteotomy through the synostosis itself which allows a derotation of the forearm into the functional intermediary position. Severe complications can occur. Indications and technique must be very careful since this congenital abnormality is very well tolerated.

Child↗
PubMed1976

Lateral canthal advancement of the supraorbital margin. A new corrective technique in the treatment of coronal synostosis.

In coronal synostosis, in addition to fusion of the coronal suture, the frontosphenoidal and frontoethmoidal sutures are usually closed. A linear craniectomy along the coronal sutures does not affect the synostotic process at the base of the skull. The facility with which the supraorbital margin could be mobilized in Tessier's method of craniofacial repair suggested to us that we could easily modify our approach to coronal synostosis and advance the supraorbital margin, creating an artificial suture at the base of the skull and allowing for proper correction of this disorder. During the past 3 years, we have treated 15 patients with coronal synostosis by this technique, which we have termed lateral canthal advancement. The method of this form of surgical management and its results are discussed.

Craniosynostoses↗
PubMed2025

Synostosis of joints caused by mutant FBN2 is linked to the abnormalities and misdifferentiation of articular surface cells.

PURPOSE: FBN2, a high-confidence effector gene for osteoarthritis (OA), was investigated for its potential role in synostosis of joints (SJ) because several OA-related genes are known to cause SJ. METHODS: We analyzed variants in OA-related genes using exome sequencing data from Chinese-Han participants with radioulnar synostosis (RUS). Variants were classified following American College of Medical Genetics and Genomics/Association for Molecular Pathology guidelines. Fbn2 knockout mice were generated via CRISPR/Cas9 and evaluated through radiological and histopathological analyses at multiple developmental stages, with complementary cellular and molecular studies. RESULTS: We identified 15 rare, damaging FBN2 variants in unrelated RUS families, including 7 likely pathogenic variants (4 null variants). Fbn2 knockout mice (both homozygous and heterozygous) exhibited SJ phenotypes. Unlike previously reported SJ mechanisms involving failed interzone formation, Fbn2-related SJ occurred after normal interzone formation. Mutant mice showed significant alterations in extracellular matrix composition and volume within articular surface cells. We proposed that these extracellular matrix changes mediated the transdifferentiation of articular surface cells into osteoblasts, which ultimately developed into bones over time. CONCLUSION: We identified FBN2 pathogenic variants that caused SJ in humans and mice. SJ caused by mutant FBN2 is linked to the abnormalities and misdifferentiation of articular surface cells.

Fibrillin-2↗
PubMed1977

[The radiogical criteria of juvenile rheumatic cerivical synostosis in adults (author's transl)].

The radiological criteria of juvenile, rheumatic, cervical synostosis discovered in adult life are described and illustrated. These include: involvement of few or many segments, a tendency to bony ankylosis of the diseased intervertebral joints, dysplasias or hypoplasia of the vertebral body and intervertebral disc and dysplasias of the neural arches and hypoplasia of the transverse processes. Pathological ossification may involve the ligamentum flavum, the annulus, or the entire disc. The differential diagnosis of juvenile, rheumatic, cervical synostosis includes congenital block vertebrae, Klippel-Feil syndrome, acquired block vertebrae, juvenile ankylosing spondylitis, synostosing, intervertebral osteochondrosis and myositis ossificans progressiva.

Adolescent↗
PubMed1978

[Familial congenital radio-ulnar synostosis (author's transl)].

Radio-ulnar synostosis is a congenital bony union between radius and ulna, usually in the vicinity of the radial tuberosity. A family is described on whom this anomaly was inherited over three generations. The rare cases described in the literature were usually bilateral, in our family it was unilateral. The following aspects are discussed: the frequency of this condition, the anatomical localisation of the synostosis, their types, local soft tissue and other abnormalities, embrylogy and the hereditory pattern. Finally, methods of treatment are discussed briefly.

Aorta, Thoracic↗
PubMed1978

Post-traumatic radio-ulnar synostosis.

Five years after an untreated ulnar fracture, a young man seen with no active or passive forearm rotation was found to have a radio-ulnar synostosis, which was surgically excised with interposition of a silicone membrane and soft tissue to decrease any tendency for new formation of the synostosis.

Adult↗
PubMed1978

Familial radioulnar synostosis.

A family with proximal radioulnar synostosis segregating in three generations is described. Familial radioulnar synostosis is a rare anomaly; however, the sporadic form is a frequent feature in cases of sex chromosome abnormalities and other syndromes. This disorder has been reported in several ethnic groups, but this is apparently the first example from the black population.

Black People↗
PubMed1979

[Mineral saturation, ossification and synostosis of the hand bones in adolescents and youth].

The results on X-ray densitometric studies of the hand bones in adolescent and young people at the age of 10--17 years (369 persons in all) are presented in the work. Processes of mineralization, ossification and synostosis, as the investigation has demonstrated, are closely connected with each other. From the beginning of ossification in the pisiform and sesamoid bones of the first metacarpophalageal joint (11--12 years of age) up to the completion of synostosis in short tubular bones of the hand (15--16 years of age), a decrease of mineral salts is noted in osseous tissue. Hence, accumulation of mineral salts in skeleton of children and adolescent persons does not occur smoothly, but rather distinctly reflects those functional changes which take place in the adolescent organism when the genital glands begin their increased activity.

Absorptiometry, Photon↗
PubMed1976

The genetics of and associated clinical findings in humero-radial synostosis.

This paper compares the manifestations of sporadic, dominantly inherited and recessively inherited humero-radial synostosis with the aim of determining ways of separating these forms on clinical grounds. The genetic forms are characterized by bilateral involvement and by lack of the distal ulnar malformations and the absence of digits that are common in the sporadic cases. The majority of patients with the dominantly inherited form have a characteristic pattern of anomalies, including brachymesophalangy, and the recessive cases have a high frequency of malformations in addition to those of the limbs. Consanguinity is frequent in the families of recessive cases. Four additional patients are presented; two of them illustrate many of the features of the phocomelic syndrome reported by Herrmann et al. (1969). A possible teratogenic cause of these cases is discussed.

Abnormalities, Multiple↗