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PubMed2004

Analysis of anatomic variations in cleft hands.

PURPOSE: This study presents an overview of the clinical and x-ray findings observed in 54 cleft hands of 31 patients. The emphasis was on a detailed analysis of typical malformation-associated x-ray patterns such as aplasia and synostosis, with findings arranged as a function of cleft location and of the Manske and Halikis classification. METHODS: The charts and radiographs of 31 patients with 54 cleft hands were reviewed retrospectively and compared with data reported in the literature. Important clinical and x-ray findings as well as the typical morphology of cleft hands were analyzed. Cleft hands were differentiated according to their location and according to the Manske and Halikis classification. In the different locations the deformities were arranged in teratologic sequences. RESULTS: In cleft hands syndactylies were seen in 30 of the 54 hands, most commonly between the ring and the small finger. In 3 hands polydactylies were noted. Analysis of the x-ray morphology showed 2 typical patterns: aplasia and synostoses. Location-specific teratologic sequences showed that radial cleft hands were bilateral more frequently and were associated significantly more frequently with cleft feet. Aplasias predominated in radial cleft hands, whereas synostoses were more common in central cleft hands. In terms of the Manske and Halikis classification the unilateral cleft hands often corresponded to type I whereas bilateral cleft hands with cleft feet mainly were type IV and type V deformities. Cleft hands with synostoses often were seen in types I to III whereas cleft hands with aplasias were classified most frequently as type V. CONCLUSIONS: Analysis of the patients' clinical data and x-rays showed differences between radial and central cleft hands, as well as between the different Manske and Halikis types.

Abnormalities, Multiple↗

PubMedDate not supplied

Ulnar nonunion after osteoclasis for rotational deformities of the forearm.

PURPOSE: Osteoclasis, a minimally invasive technique to rotate the radius and ulna, is used commonly to correct forearm rotational deformities in children. The purpose of this investigation was to evaluate objectively osteotomy healing in patients treated with osteoclasis, with specific attention given to the risk for nonunion. METHODS: We identified 69 extremities in 65 children treated with osteoclasis and performed retrospective chart and radiographic reviews to evaluate the time to union of the radius and ulna and factors influencing healing. RESULTS: The average rotational correction was 90 degrees. Twenty-one ulnas had either delayed union or nonunion. Forty-eight of the forearms healed in less than 3 months. Factors correlated with a significantly decreased union rate included increased patient age, percutaneous technique, osteoclasis site in the proximal ulna, and primary diagnoses other than congenital radioulnar synostosis. Preoperative forearm position, magnitude of position correction, and treatment of the periosteum were not associated with changes in union rates. CONCLUSIONS: Forearm osteoclasis has a delayed union rate of 16%. Timely union of the ulna appears to be influenced by both patient-centered factors and surgical technique. TYPE OF STUDY/LEVEL OF EVIDENCE: Therapeutic, Level IV.

Adolescent↗

PubMed2006

Methimazole embryopathy: a contribution to defining the phenotype.

It has been suggested that children prenatally exposed to methimazole may present some features in common but the phenotype remains to be defined. The reported facial features include upward slanted palpebral fissures, arched flared eyebrows and small nose with a broad bridge. Choanal atresia and other anomalies like esophageal atresia and aplasia cutis were also described with this embryopathy. Additionally, developmental delay was reported in some patients along with one of these major malformation. We present a patient with the mentioned facial features, developmental delay and radio-ulnar synostosis whose mother has been exposed to methimazole during pregnancy and any other ethiological cause could be recognize.

Abnormalities, Drug-Induced↗

PubMed2004

Nager syndrome (preaxial acrofacial dysostosis): a case report.

The Nager syndrome is a rare condition associated with craniofacial malformations such as micrognathia, zygomatic hypoplasia, cleft palate, and preaxial limb deformities. This report features a case of the Nager syndrome occurring in a 4-year-old boy showing microdontia, thumb duplication and radioulnar synostosis, and ventricular septum defect, characteristics not usually encountered in the published cases.

Child, Preschool↗

PubMed1982

The Antley-Bixler syndrome.

Three unrelated children (two girls and one boy) with the Antley-Bixler syndrome have been evaluated, bringing to five the number of patients reported with this disorder. All have had brachycephaly, midface hypoplasia, dysplastic ears, radiohumeral synostosis, and joint contractures. Craniosynostosis has been documented radiographically in four of the five patients. All five have had a severely shortened cranial base. Femoral bowing with neonatal fractures has been a variable feature. All have represented sporadic occurrences in otherwise normal families.

Abnormalities, Multiple↗

PubMed1984

Cranial manifestations of hypophosphatasia in childhood nephrotic syndrome.

A 7-year-old boy was referred to the children's hospital because of gross oedema and tiredness. Massive proteinuria was found and the condition was diagnosed as a childhood nephrotic syndrome. Concomitantly, pathologically low levels of serum alkaline phosphatase were recorded, and this, together with generalized osteoporosis and premature synostosis of cranial sutures, led to a second diagnosis: hypophosphatasia. The patient's family history further confirmed this condition of a heritable defect of metabolism. Dental inspection revealed very carious teeth with characteristically enlarged pulp chambers in molars. Histological examination of an extracted tooth revealed an unusually wide zone of predentine with some other dentinal irregularities. No cement layer was found. The skeletal age and exfoliation of primary teeth, however, were normal, unlike most reported cases of hypophosphatasia. The patient's renal disease was treated mainly with corticosteroids. There is no treatment for hypophosphatasia.

Child↗

PubMed1997

Congenital synchondrosis of the scaphotrapezio-trapezoidal joint.

Incomplete cavitation of the cartilaginous precursor of the carpus during the fourth to eighth weeks of intrauterine life results in carpal synostosis or synchondrosis, which becomes radiographically apparent as the carpus ossifies. Such anomalies occur rarely, are generally believed to be asymptomatic, and are usually discovered as incidental radiographic findings. We present two cases of symptomatic, nonsyndromic congenital synchondrosis of the scaphotrapezio-trapezoidal joint, a type of carpal coalition not previously reported.

Adolescent↗

PubMed1991

Creation of an opposable small finger by muscle transfer.

We present a case of a child born with metacarpal synostosis of the index, long, and ring fingers associated with a simple syndactyly of the small finger and an absent thumb. At age 7 months, a syndactyly release with skin grafting to the small finger was accomplished so that it became the new thumb. At age 4 years, one of the muscles on the radical border of the hand was transferred to the small finger to act as an opposition transfer. At follow-up, the transfer contracted well and the functional capability of the hand was improved. This operation will not often be used but should be considered for the occasional patient with congenital anomalies.

Fingers↗

PubMed1984

Ulnar ray deficiency: its various manifestations.

Eighty-eight upper extremities of 65 patients with ulnar ray deficiency were reviewed with regard to clinical manifestations. Based on the findings, a subclassification into four types was established: type I, hypoplasia or partial defect of the ulna; type II, total defect of the ulna; type III, total or partial defect of the ulna with humeroradial synostosis; and type IV, ulnar defect with congenital amputation at the wrist. Various manifestations of deficiency were evident not only within the ulnar ray but also in other rays. Hypoplasia of the shoulder and/or proximal part of the humerus was present in some cases of types III and IV. Elbow involvement varied from functioning (type I) to acute flexion contracture (type II) to fusion (type III). In 57 hands the digits and carpal bones in the radial ray showed hypoplasia and/or defect. Central digits and carpal bones were also influenced by ulnar ray deficiency, presenting carpal bone fusion, syndactyly, and delta phalanx.

Abnormalities, Multiple↗

PubMed2001

[Ulnar nerve compression and pseudoarthrosis of the medial metacarpal bases].

A case of compression of the deep branch of the ulnar nerve associated with pseudarthrosis of the base of the fifth metacarpal and the upper shaft of the fourth metacarpal is reported. The delayed procedure consisted in volar decompression of the ulnar nerve by dividing the pisi-hamate ligament and plating and grafting of both fractures. The patient achieved marked improvement four weeks post-operatively and had complete functional recovery at follow-up of 16 years after injury without narrowing of the hamato-metacarpal joint despite synostosis of the bases of the medial metacarpals.

Adult↗

PubMedDate not supplied

Cavovarus foot deformity with multiple tarsal coalitions: functional and three-dimensional preoperative assessment.

In rare instances, tarsal coalition leads to cavovarus foot deformity, although the pathologic mechanism leading to this deformity is not clear. This article reports a case of a 14-year-old boy presenting a severe cavovarus deformity of the right foot with talocalcaneal and calcaneonavicular coalitions, and a mild cavus deformity of the left foot with a single talocalcaneal coalition. Computed tomography and postoperative histologic analysis demonstrated a synostosis between talus and calcaneus and a fibrous calcaneonavicular coalition with partial ossification. Instrumented gait analysis revealed a limited range of ankle plantar flexion and increased external rotation of the ankle. Associated skeletal malformations including incomplete hemimelia of the forearm and scoliosis raised the possibility of a teratologic condition, but neurologic examination, spinal magnetic resonance imaging, and nerve conduction velocities were normal. The progressive ossification of combined coalitions during growth of the foot may have been one factor leading to this complex foot deformity. The fine-wire electromyogram showed normal tibialis anterior and posterior muscle activity. Small soft tissue tears in the sinus tarsi may have led to a mild reflexive increase of the muscle tone and tendon shortening, which pulled the forefoot into adduction and the heel into varus, and raised the medial arch. Mechanical alterations of the ankle appear secondary to the heel varus and to the progressive deformity of the talus. Three-dimensional computed tomography reconstruction and gait analysis appeared to be helpful additional parameters to understanding the pathomechanics of this complex foot deformity and for preoperative planning of triple arthrodesis.

Adolescent↗

PubMed1999

The spectrum of radial longitudinal deficiency: a modified classification.

The records of 119 patients with 196 extremities with radial longitudinal deficiency seen between 1923 and 1996 were reviewed. We propose a global classification system that includes the spectrum of pathology affecting the radial side of the extremity, including deficiency of the radius, carpal abnormalities, and hypoplastic thumbs. Radial deficiency could be classified for 181 extremities of 104 patients using this classification system. Type N has a normal length radius and a normal carpus with thumb hypoplasia, type O has a normal length radius and radial side carpal abnormalities, type 1 has more than 2 mm shortening of the radius, type 2 has a hypoplastic radius, type 3 has a partial radius with absence of the distal physis, and type 4 has complete absence of the radius. All patients had thumb hypoplasia. Eighty-two percent of extremities with thumb hypoplasia but no deficiency of the radius that were available for carpal bone classification had carpal anomalies, including absence, hypoplasia, and coalitions. All the extremities with type 1 radial deficiency had carpal anomalies. Carpal abnormalities could not be determined for types 2, 3, and 4 deficiency because most had a prior centralization. Proximal radioulnar synostosis or congenital dislocation of the radial head was seen in 44% of extremities with type 1 radial deficiency. This classification includes carpal anomalies and thereby links isolated thumb hypoplasia and deficiency of the radius into one system.

Carpal Bones↗

PubMed2002

Paediatric transcranial surgery: a review of 114 consecutive procedures.

Craniofacial units have a responsibility to collect data, to promote research and training and to carry out audit. We present a review of 114 consecutive transcranial procedures performed in 110 children in our unit over an 8 year period, with particular reference to complications. There were no deaths in this series. Complications included two cases of excessive intraoperative blood loss necessitating a delay in the procedure, and two postoperative infections that required aggressive antibiotic management. Minor complications, delaying hospital discharge, occurred in 13 patients. Within the range of paediatric transcranial procedures performed, the potential for complications is greater for complex osteotomies in syndromic conditions than for single sutural synostosis correction. The transcranial case mix included a relatively small number of craniofacial dysostoses, which contributes to the very low complication rate reported. This report demonstrates that multidisciplinary assessment and planning, adherence to craniofacial surgical principles, shorter operating times and avoidance of high-risk procedures contribute to a low complication rate, and confirms that paediatric transcranial procedures can be safely performed in dedicated centres where there is a multidisciplinary team with appropriate commitment and experience.

Adolescent↗

PubMed1975

[Sterno-costo-clavicular hyperostosis: a hitherto undescribed entity (author's transl)].

Persistent pulling pain in the sternum, clavicles and both first ribs, especially during cold and wet weather, necessitated medical investigations and treatment in 3 patients. Externally a cylindrical or spindle-shaped swelling of the clavicles was noticeable and two patients had signs of superior caval obstruction in addition. X-rays showed hyperostosis of the sternal and middle part of the clavicle, synostosis of the sternoclavicular joints with involvement of the two first ribs as well as a thickening and increase in breadth of the sternum. In one patient there were additional swellings of the first to fourth ribs bilaterally. During the period of observation there was no radiological progression of the bone disease. Apart from a consistently raised erythrocyte sedimentation rate blood chemistry was normal. The sterno-costo-clavicular hyperostosis led to bilateral occlusion of the subclavian veins with resulting upper venous congestion in two patients. Histology of the biopsy samples showed a characteristic hyperostotic spongiosclerosis in all three cases. The cause of this sterno-costo-clavicular hyperostosis is unknown. Clinical, radiological and histological findings indicate that it is a uniform disease which has not previously been described.

Biopsy↗

PubMedDate not supplied

[The os lunato-triquetrum].

The os lunato-triquetrum is a fusion of the lunate with the triquetral bone. It is the most frequent anomalie of the carpe and nearly always asymptomatic. The coalition is mostly an isolated event or part of a syndrome of multiple anomalies. A case report of four patients with an synostosis between the lunate and the triquetrum is represented, two of them were members of African people. The high incidence in Africa and the geographical distribution of the described anomalie in black people of African descent are seen - under anthropological points of view - as ethnogenetic and ethnohistorical events.

Abnormalities, Multiple↗

PubMedDate not supplied

[Dysontogenetic blockbuilding of the vertebrae at the lumbo dorsal junction].

It is reported in two cases of synostosis of the vertebral which is related in the Medical literature as "Dysontogenetic blockbuilding of the Corpus Vertebrae". This condition could be seen in a 13 year old boy in the area of Th 9 to Th 12 and in a 13 year old girl from Th 11 to L1. The clinical and radiological findings of these two cases will be described and discussed. An attribution of these cases to the "Dysontogenetic blockbuilding" groups was based on a disturbance of the vertebral forming. A causal therapy is not possible.

Adolescent↗

PubMedDate not supplied

[Atypical thoracic deformities: evaluation and operative sequelae].

Until 1982 we have performed 1410 chest wall corrections in our clinic. 0.5 percent were related to cleft sternum or osteocartilagineous defects, 2.3 percent to premature sternal synostosis, 0.5 percent followed the reconstruction of congenital diaphragmatic hernias. Another 17 percent were characterized by extreme flat chest, atypical anterolateral asymmetric or extreme position of the punctum maximum. Morphological parameters are taken by pelvimeter and profile measurements, operative consequences derived from the morphological typing and grading and the clinical finding.

Airway Obstruction↗

PubMed2001

Human disease-causing NOG missense mutations: effects on noggin secretion, dimer formation, and bone morphogenetic protein binding.

Secreted noggin protein regulates bone morphogenetic protein activity during development. In mice, a complete loss of noggin protein leads to multiple malformations including joint fusion, whereas mice heterozygous for Nog loss-of-function mutations are normal. In humans, heterozygous NOG missense mutations have been found in patients with two autosomal dominant disorders of joint development, multiple synostosis syndrome (SYNS1) and a milder disorder proximal symphalangism (SYM1). This study investigated the effect of one SYNS1 and two SYM1 disease-causing missense mutations on the structure and function of noggin. The SYNS1 mutation abolished, and the SYM1 mutations reduced, the secretion of functional noggin dimers in transiently transfected COS-7 cells. Coexpression of mutant noggin with wild-type noggin, to resemble the heterozygous state, did not interfere with wild-type noggin secretion. These data indicate that the human disease-causing mutations are hypomorphic alleles that reduce secretion of functional dimeric noggin. Therefore, we conclude that noggin has both species-specific and joint-specific dosage-dependent roles during joint formation. Surprisingly, in contrast to the COS-7 cell studies, the SYNS1 mutant was able to form dimers in Xenopus laevis oocytes. This finding indicates that there also exist species-specific differences in the ability to process mutant noggin polypeptides.

Animals↗