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PubMed2004

Fibular segment bone bridging in trans-tibial amputation.

The purpose of this paper is to present an alternative method of achieving a synostosis between tibia and fibula in trans-tibial amputations by means of a fibular segment in place of tibial osteoperiosteal flaps as described by Ertl, in 1949. From May 1997 through to February 2003, 15 patients were submitted to the proposed procedure. As a result, all patients produced a solid synostosis between tibia and fibula and were rehabilitated with the use of prostheses. The capacity of these patients for distal weight-bearing on the stump was remarkable when compared to patients submitted to the conventional trans-tibial amputation technique.

Adult↗

PubMed1975

[A case of endogenous familial hereditary malformation of both hands].

A case of congenital malformation of both hands in a 22 year old television-technician, who otherwise showed no abnormalities, is reported. In his case, a familiar incidence was observed constantly in all males for a period of nearly 200 years. The morphological picture of this malformation is as follows: left hand: postaxial oligodactyly with a cutaneous syndactyly of the third and fourth fingers accompanied by a V-shaped os metacarpale and a synostosis of the os triquetrum, os lunatum and possibly of the os pisiforme right hand: postaxial oligodactyly with an accessory hypoplastic third finger on the ulnar side with a common base of the proximal phalanx which was enlarged at the end and shorter than the others (symbrachybasophalanx). Os multangulum minus and os capitatum as well as os triquetrum and possibly also the os pisiforme showed a synostosis. Subjective symptomatology and further clinical investigations (Phonocardiogramm) revealed an associated heart disease. This kind of malformation of both hands is transmitted inclompletely only in males.

Abnormalities, Multiple↗

PubMed1988

[Congenital changes in the elbow joint].

Radio-ulnar synostosis is one of the congenital malformations of the elbow joint that can be severely disabling, especially if it is present bilaterally or there is marked hyperpronation. In the case of fixed pronation of 60 degrees or more corrective surgery is definitely indicated to reduce functional impairment. As yet, there is no standard operative procedure for restoration of useful supination/pronation function of the forearm. Derotational osteotomy at the site of synostosis seems to be the best procedure. As the postoperative aim we recommend fixed pronation at 15 degrees -35 degrees for the dominant hand and fixed supination at 15 degrees -30 degrees for the contralateral hand. Major derotational procedures should be performed in several stages to avoid neurovascular complications.

Elbow Joint↗

PubMed1979

[A case report: pseudarthrosis of the os lunato-triquetrum?].

The reported case is in its development, diagnostic, course, and legal aspect so extraordinary, that an explicit report is justified. The patient complained of pain in his right wrist region some days following an unusual work with a drilling machine for eight days. The X-rays six months later showed an irregular joint space between the lunate and triquetrum bone, while on his left wrist a synostosis between these bones was found. These changes seemed to be suspicious for a pseudarthrosis of a congenital synostosis, but this diagnosis led to a six years' controversy in several legal procedures. The different interpretations (judgements) by the attending doctors, specialists, and judicial experts, show again the importance of an exact early documentation with sufficient primary X-rays, eventually with comparison of the other hand. During treatment, nothing should be left undone which could support or refute especially an unusual diagnosis.

Adult↗

PubMed1983

Complications of plate fixation of forearm fractures.

Sixty-four adult patients (87 diaphyseal forearm fractures) were treated by plating. Thirty-nine percent of the fractures were classified as single bone fractures (16% radius, 23% ulna); 43% were both radial and ulnar fractures, and 19% were Galeazzi or Monteggia fracture-dislocations. A major complication occurred in 18 (28%) patients. Nonunion occurred in six patients: three of 18 bones treated with four screws (17%), but only three of 69 bones fixed with five or more screws (4.3%), a nonunion rate four times higher for bones plated with four screws. Screws loosened in three fractures, all involving the ulna. Radioulnar synostosis occurred in seven forearms, and in five of these the forearm injuries were associated with multiple system trauma involving head injury. Two patients had osteomyelitis. Both were victims of massive crush injury and delayed internal fixation, and both required removal of the implant; but eventually the fractures healed. Plate fixation of forearm fractures can have a high complication rate. Meticulous attention to surgical technique and the use of plates long enough to provide secure fixation can not be overemphasized. An increased incidence of synostosis in polytrauma, head-injured patients was noteworthy.

Adolescent↗

PubMed1982

[Symphalangism and multiple synostoses disease: a study of 2 families].

The more frequent practise of X-ray examination shows that symphalangism may be involved by other synostosis. Maroteaux described in 1972 "multiplex synostosis disease". Seven personal cases (all female) in two families are described with particular problem of deafness and vertebral fusion. Dominant autosomic inheritance.

Adolescent↗

PubMed1999

TWIST gene mutation in a patient with radial aplasia and craniosynostosis: further evidence for heterogeneity of Baller-Gerold syndrome.

The term Baller-Gerold syndrome was coined by Cohen [1979: Birth Defects 15(5B): 13-63] to designate the phenotype of craniosynostosis and radial aplasia. It is thought to be a rare autosomal recessive condition, which, in some patients, presents with additional abnormalities, such as polymicrogyria, mental retardation or anal atresia. A phenotypic overlap of Baller-Gerold and Roberts-SC phocomelia syndrome was noted when a patient with bicoronal synostosis and bilateral radial hypoplasia was found to have premature centromere separation, a finding characteristic of Roberts syndrome [Huson et al.,1990: J Med Genet 27:371-375]. Other cases of presumed Baller-Gerold syndrome were rediagnosed as Fanconi pancytopenia, Rothmund-Thomson syndrome or VACTERL association. These reports led to a narrowed redefinition of Baller-Gerold syndrome based on the exclusion of cytogenetic and hematopoetic abnormalities and the absence of additional malformations in patients with craniosynostosis and preaxial upper limb abnormalities. Here we report on a patient with unilateral radial aplasia and bicoronal synostosis without additional malformations and without chromosome breakage, who fits this narrow definition of Baller-Gerold syndrome. We identified a novel TWIST gene mutation in this patient, a Glu181Stop mutation predicting a premature termination of the protein carboxy-terminal to the helix 2 domain. This report provides further evidence that Baller-Gerold is of heterogeneous cause, and a thorough evaluation is indicated to identify a possibly more specific diagnosis, including Saethre-Chotzen syndrome. This differential diagnosis is of particular importance, as it is an autosomal dominant trait. Therefore, the recurrence risk for parents of an affected child can be 50% if one parent carries the mutation, as opposed to the 25% recurrence risk for autosomal recessive inheritance. Offspring of the affected patient also have a 50% risk to inherit the mutation, while the risk to bear an affected offspring for an autosomal recessive trait is very low.

Adolescent↗

PubMed1993

Hypomandibular faciocranial dysostosis: another case and review.

We report on a third case of hypomandibular faciocranial dysostosis and review the literature. Manifestations include craniosynostosis, prominent eyes, deficient midface and zygomatic arches, short nose with anteverted nares, protruding lower face, minute oral aperture, persistent buccopharyngeal membrane, and severe mandibular hypoplasia. In contrast to coronal synostosis found in the 2 earlier cases, our patient had multiple sutural synostosis. The 2 affected sibs reported earlier suggest the possibility of autosomal recessive inheritance. However, gonadal mosaicism for a dominant mutation or an undetected microdeletion must also be considered at this early stage in the delineation of this disorder.

Abnormalities, Multiple↗

PubMed1993

Association between "plagiocephaly" and hemifacial microsomia.

Fifteen of 155 patients with hemifacial microsomia were noted to have frontal plagiocephaly. These patients were examined to determine whether the frontal flattening was either secondary to deformation, the result of unilateral coronal synostosis, or part of the spectrum of hemifacial microsomia. The patients were categorized as having deformational versus synostotic frontal plagiocephaly by documenting position of the supraorbital rims, nasal root, ears, malar eminences, chin point, and the palpebral fissure height. Other extracraniofacial anomalies were also noted. Fourteen of 15 (93%) patients had characteristic deformational abnormalities. Only 1/15 (7%) had an elevated orbit, suggestive of unilateral coronal synostosis, but this diagnosis was not radiographically confirmed. Frontal deformational plagiocephaly was ipsilateral to the side predominantly affected by hemifacial microsomia in all but one patient. Patients with hemifacial microsomia-deformational frontal plagiocephaly often had ipsilateral torticollis, cervical spine abnormalities, and anomalies outside the craniofacial region. This was in contrast to patients with deformational frontal plagiocephaly, in the absence of hemifacial microsomia, who frequently had ipsilateral torticollis but no other anomalies. This study also underscores possible confusion in differentiating hemifacial microsomia from deformational hemifacial hypoplasia on physical examination. The association of deformational frontal plagiocephaly and hemifacial microsomia belies a rigid etiologic label of deformational versus malformative anomaly.

Adult↗

PubMed1995

Anophthalmos-syndactyly (Waardenburg) syndrome without oligodactyly of toes.

We report on 2 brothers from a consanguineous family from a small city of southeast Turkey. Both have bilateral anophthalmia, soft tissue syndactyly of the feet, bilateral partial synostosis of metatarsals IV and V, and basal synostosis of the fourth and fifth toes on the right in the older sib only, thus differing from all previously reported cases of anophthalmos-syndactyly syndrome.

Child↗

PubMed2004

A novel type of autosomal recessive syndactyly: clinical and molecular studies in a family of Pakistani origin.

Non-syndromic syndactylies have been classified into five major types (I-V), all showing autosomal dominant mode of inheritance. Later, the classification was extended and three additional variants (VI-VIII) were defined. Type VII, the Cenani-Lenz syndactyly, is the only non-syndromic, autosomal recessive type. It is characterized by fusion of all phalanges with metacarpal synostosis, dislocated and dysplastic carpals and infrequently, radio-ulnar fusion. Here, we present a Pakistani family with a novel non-syndromic autosomal recessive syndactyly manifesting a unique combination of clinical features. In both hands, reduction of certain phalanges is evident. Radiological examination shows synostosis of third and fourth metacarpals bearing single phalanges. The first three toes are webbed, with hypoplastic terminal phalanx in all the toes. Besides Cenani-Lenz syndactyly, the phenotype segregating in our family is the second well-documented autosomal recessive, non-syndromic syndactyly. A phenotype similar to our family was described in a Turkish kindred but was considered to be a homozygous expression of type I syndactyly. Since the clinical features in our family had minimal overlap with syndactyly types I, II, and III, we have performed microsatellite marker screening to look for the cosegregation of this phenotype with any of the known loci for these respective types. We show that the phenotype in our family is not linked to chromosomal regions 2q34-q36, 2q31, and 6q22-q23 encompassing loci for syndactyly types I, II, and III.

Adult↗

PubMed2005

A newly recognized syndrome involving limbs, pelvis, and genital organs or a variant of Al-Awadi/Raas-Rothschild syndrome?

We report on a 3-year-old Thai boy with limb, pelvic, and genital malformations. The combination of findings found in this patient is similar to that of Al-Awadi/Raas-Rothchild syndrome (AARRS) or limb/pelvis hypoplasia/aplasia syndrome. The upper limbs are more severely affected than the lower ones. Unlike that of AARRS, the radial ray is more severely affected than the ulnar ray. The presence of humeroulnar synostosis and humero-ulnar-radial synostosis and the absence of a radius distinguishes it from AARRS. The similarities and dissimilarities between the features in the present patient and other limb-pelvic hypoplasia/aplasia syndromes are discussed. The findings in this group of patients appear to demonstrate limb-pelvis-genital organ developmental field defects.

Abnormalities, Multiple↗

PubMed2026

Third Patient With Biallelic Variants in SMAD6 With an Overlapping Phenotype: Developmental Delays, Dysmorphic Features, and Cardiovascular Abnormalities.

SMAD6 encodes an inhibitory SMAD protein that modulates BMP and TGF-β signaling. Heterozygous pathogenic variants in SMAD6 have been primarily associated with aortic valve disease, radioulnar synostosis, and nonsyndromic sagittal and metopic synostosis. However, only two syndromic patients with biallelic variants have been reported in the literature. We report a 4-year-old girl with neurodevelopmental delays, dysmorphic features, complex congenital heart disease, renal asymmetry, and arterial tortuosity. Whole exome sequencing showed two homozygous SMAD6 variants of uncertain significance: c.161G>T (p.Gly54Val) and c.1A>G (p.Met1?). This is the third patient with biallelic SMAD6 variants associated with skeletal changes, more complex cardiovascular phenotype, facial dysmorphism, and novel arterial abnormalities. This suggests biallelic variants may cause a distinct and potentially more severe autosomal recessive syndrome. Functional investigation is needed to determine the molecular consequences of biallelic SMAD6 variants and to inform variant classification and mechanism. This report characterizes a potential unique genetic syndrome associated with biallelic SMAD6 variants, highlighting the importance of additional sequencing, vascular imaging, and multidisciplinary care coordination for these patients.

SMAD6↗

PubMed1996

Factitious lambdoid perisutural sclerosis: does the "sticky suture" exist?

We report a patient with occipital flattening attributed to lambdoid synostosis on the basis of perisutural sclerosis. The lambdoid suture was patent at surgery and by histology. Specimen radiography showed no perisutural sclerosis. This case questions the validity of peri- sutural sclerosis as a radiographic indicator of impending lambdoid synostosis.

Craniosynostoses↗

PubMed2005

Association of a sylvian arachnoid cyst and trigonocephaly in a developing child: importance and management.

INTRODUCTION: Trigonocephaly and arachnoid cysts are two different entities that may cause intracerebral pressure elevation: one by space occupying and the other by space restriction. The true incidence of association of trigonocephaly and sylvian arachnoid cyst is not known. We present a rare case of trigonocephaly associated with a sylvian arachnoid cyst in a patient that underwent forehead reconstruction and fenestration of the arachnoid cyst in the same operation. CASE REPORT: Investigation of an 11-month-old girl suffering from triangular appearance of the forehead since birth revealed metopic suture synostosis and type II sylvian arachnoid cyst. Neurological examination was normal. There were no seizure history and no other systemic malformation that could be a part of any syndromes associated with cranial synostosis. Forehead reconstruction with forehead advancement for trigonocephaly and fenestration of the arachnoid cyst to the basal cisterns were performed in the same operation. Satisfactory outcome was achieved. CONCLUSION: The coexistence of craniosynostosis and arachnoid cyst is rare. They can be treated surgically in a single session.

Arachnoid Cysts↗

PubMed2000

Early experience with poly L-lactic acid bioabsorbable fixation system for paediatric craniosynostosis surgery. Report of 3 cases.

OBJECTIVE: The authors describe early experience in the use of bioabsorbable fixation devices for cranial reconstruction of paediatric craniosynostosis patients. METHODS: Three patients, individually respectively presenting sagittal synostosis, metopic synostosis, and clover leaf skull deformity, underwent cranial reconstruction using poly L-lactic acid (PLLA) plates and screws. The patients ranged in age from 2 to 10 months at the time of surgery. The postoperative clinical follow-up ranged from 16 to 18 months. All patients showed satisfactory wound healing without signs of infection or local inflammation. The plates provided satisfactory fixation and were not palpable through the skin after 16 to 18 postoperative months. CONCLUSION: Our experience demonstrated the efficacy of PLLA bioabsorbable plates and screws for cranial reconstruction in cases of infant craniosynostosis. Prospective studies and longer follow-up of a larger number of patients is desirable for confirmation of these findings.

Absorbable Implants↗

PubMed1992

A plea for early operation for craniosynostosis.

In times when much is written of complex craniofacial operations for synostosis, it is important to reassess the efficacy of simpler operations on the cranium when carried out in the first few weeks of life. Examples of sagittal, coronal, and lambdoid synostosis are shown, as well as one patient with multiple suture involvement.

Craniosynostoses↗

PubMed1996

[Chiari "malformation" in Crouzon syndrome].

BACKGROUND: Use of MRI makes the association Chiari malformation-cranio-facial synostosis more frequent than expected. The aim of this work was to ascertain the true incidence of Chiari malformation and to understand the reasons of the association between a bone pathology and a CNS malformation. PATIENTS AND METHODS: The anatomy of the posterior cranial fossa in Crouzon syndrome was retrospectively studied on MRI scan in 49 patients. RESULTS: A chronic tonsillar herniation, similar to a Chiari malformation, was observed in 71.4% of the cases. All the patients with Crouzon syndrome and progressive hydrocephalus had a Chiari malformation, but only 19 out of the 33 patients without associated hydrocephalus had a Chiari malformation (57.6%). Significant differences between the pattern of lambdoid suture closure were founded between both groups, with and without Chiari malformation, the lambdoid closure appearing earlier in patients with Chiari malformation. CONCLUSION: The high incidence of chronic tonsillar herniation in Crouzon syndrome seems related to the premature synostosis of the lambdoid suture.

Actuarial Analysis↗