ABSTRACT
BACKGROUND: Obstetric brachial plexus palsy aredue to elongation of the brachial plexus during delivery by increasing thedistance between the head and shoulder. The majority of paralysis recoverspontaneously, but in some cases, nerve repair is necessary. The timing of thisnerve surgery and criteria for its indication are topics of discussion in theworld literature.The aim of this study is to askdirections and to evaluate the contribution of nerve surgery in improving theprognosis of this disease. METHODS: This is a retrospective study thathas interested 68 cases of obstetric brachial plexus palsy who needs a nerverepair, collected over a 8 year-period (2004 - 2011). We analyzed the musclequotes and evaluate the functions of the shoulder, elbow and hand pre and postoperative. A minimum 12 months'follow-up was observed. RESULTS: Seventy-eight patients werecollected, 33 boys and 35 girls with a 62 days mean age at first consultationand a mean birth weight of 4187 grams . The presentation was cephalic in 66 cases. Theright side was interested in 66%. Clinically, we reported 50% of total brachialplexus palsy and 50% of C5-C6 palsy.The mean age at time of surgery was 9 months 10 days. Preoperatively, the shoulder was listed 0 or 1 according to Gilbert classification in 70% of cases in the C5-C6 plasy and 90% of the total brachial palsy. After a mean follow up of 30 months, the rate was respectively 9% and 15%. In 75% of cases of total brachial palsy, the hand was listed 0 according to Raimondi scale, while in postoperative, 65% of cases, the hand was listed 2 and 3 according to Raimondi scale. Nerve rupture was the predominant lesion on the C5 and C6 root while fibrosis was predominant on C7, C8 and T1 roots. We noted 6 complications including respiratory distress. CONCLUSIONS: The nerve repair should not beperformed too early or too late. Too soon, we may operate those who can have aspontaneous recovery. Too late, the installation of the degeneration of motorendplates and muscle atrophy render unnecessary nerve repair. The absence ofbiceps clinical recovery in the 6th month of life and the presence of root-wrenching signs represented the absolute surgical indications. Its results areencouraging and improve functional outcome.
Subject(s)
Birth Injuries/surgery , Brachial Plexus Neuropathies/surgery , Brachial Plexus/surgery , Neurosurgical Procedures , Paralysis/surgery , Birth Injuries/complications , Birth Injuries/epidemiology , Brachial Plexus Neuropathies/epidemiology , Cohort Studies , Female , Follow-Up Studies , Humans , Infant , Male , Neurosurgical Procedures/adverse effects , Neurosurgical Procedures/methods , Neurosurgical Procedures/statistics & numerical data , Paralysis/epidemiology , Paralysis/etiology , Retrospective Studies , Treatment OutcomeABSTRACT
We report on a-6-months-old girl who manifested the phenotypic features of focal dermal hypoplasia. Significant limb deformities in connection with typical skin changes were documented. The family history had a high frequency of spontaneous abortions and male stillbirths. Male stillbirths are a landmark in favour of X-linked dominant pattern of inheritance. Despite the severe hand/foot deformities, the skull base and the tubular bones were sclerotic.
Subject(s)
Focal Dermal Hypoplasia/complications , Focal Dermal Hypoplasia/diagnosis , Female , Focal Dermal Hypoplasia/genetics , Genetic Diseases, X-Linked/complications , Genetic Diseases, X-Linked/diagnostic imaging , Genetic Diseases, X-Linked/genetics , Humans , Infant , Limb Deformities, Congenital/complications , Limb Deformities, Congenital/diagnostic imaging , Limb Deformities, Congenital/genetics , Phenotype , RadiographyABSTRACT
The purpose of this study is to evaluate the early results of the Ponseti method and the effectiveness of the Steenbek foot abduction brace. A total of 74 patients with 110 idiopathic clubfeet were included in this prospective study. The feet were evaluated according to the Dimeglio-Bensahel classification, the Catteral-Pirani classification and the functional classification of the Hospital for Joint Diseases. Ninety-eight feet (89%) had a good result after the casting period. All the feet evaluated after the period of full-time bracing and during the period of part-time bracing showed a good correction. The Ponseti method using the Steenbek foot abduction brace is effective in correcting idiopathic clubfeet.
Subject(s)
Braces , Clubfoot/therapy , Braces/adverse effects , Clubfoot/pathology , Female , Humans , Infant , Infant, Newborn , MaleABSTRACT
A group of syndromes, consisting of Malpuech syndrome, Michels syndrome, Carnevale syndrome, OSA syndrome, and Mingarelli syndrome share the combination of symptoms of highly arched eyebrows, ptosis, and hypertelorism, and vary in other symptoms such as asymmetry of the skull, eyelid, and anterior chamber anomalies, clefting of lip and palate, umbilical anomalies, and growth and cognitive development. It has been suggested that they are in fact part of the same entity. Here, we describe a brother and sister with the same constellation of symptoms, and compare these with the various entities. We conclude that the present patients resemble most patients with Carnevale and Mingarelli syndrome, and the case reported by Guion-Almeida, and that these patients form together most probably the same entity. We suggest the name Carnevale syndrome as this author described this combination of symptoms for the first time. Malpuech and Michels syndromes are probably separate entities, although they may still be allelic. Pattern of inheritance of Carnevale syndrome is most likely autosomal recessive.
Subject(s)
Abnormalities, Multiple/diagnosis , Blepharoptosis/pathology , Cleft Lip/pathology , Craniofacial Abnormalities/diagnosis , Craniosynostoses/diagnosis , Hypertelorism/pathology , Nose/abnormalities , Abnormalities, Multiple/pathology , Bone Diseases/diagnosis , Child, Preschool , Cleft Palate/pathology , Craniofacial Abnormalities/pathology , Craniosynostoses/diagnostic imaging , Eyelids/abnormalities , Face/abnormalities , Female , Genes, Recessive , Humans , Male , Radiography , Skull/abnormalities , Syndrome , Torticollis/pathology , Urogenital Abnormalities/diagnosis , Urogenital Abnormalities/pathologyABSTRACT
We report a male child with Oromandibular-limb hypogenesis (OMLH), the main features being bilateral sixth and seventh nerve palsies, limb anomalies and hypoplasia of the tongue. Additional features were shortness of the neck associated with torticollis. Radiographs of the cervical spine were non-contributory, but 3D computed tomography (CT) scanning of this area identified: a) congenital hypoplasia of the atlas; b) the simultaneous development of occiput-atlas malformation/developmental defect. To our knowledge, this is the first clinical report assessing the cervico-cranium malformation in a child with OMLH-Möbius syndrome.
Subject(s)
Abnormalities, Multiple/diagnosis , Craniofacial Abnormalities/diagnosis , Limb Deformities, Congenital/diagnosis , Mobius Syndrome/diagnosis , Abnormalities, Multiple/genetics , Abnormalities, Multiple/physiopathology , Child Development , Child, Preschool , Craniofacial Abnormalities/genetics , Craniofacial Abnormalities/physiopathology , Humans , Infant , Infant, Newborn , Limb Deformities, Congenital/genetics , Limb Deformities, Congenital/physiopathology , Male , Mobius Syndrome/genetics , Mobius Syndrome/physiopathology , PhenotypeABSTRACT
BACKGROUND: Shoulder sequelae of obstétrical brachial plexus palsy put a different problem of coverage according to the age of the patients and the presence or not of ostéo-articular deformations. At an advanced age and in the presence of ostéo-articular deformations, the muscles liberation and transfers tendineux only are insufficient for the restoring of a satisfactory function to the paralytic shoulder. AIM: The purpose of this study is to report an original technique by the association of libertation of retracted muscles and a humeral osteotomy to improve the abduction and to acquire an active external rotation in internal rotation retraction of the shoulder sequelae of obstétrical brachial plexus palsy. METHODS: This retrospective study concerned twelve patients admitted in the service of Childish Orthopaedics of Children's hospital of Tunis between 1997 and 2003. The average age of the patients are 11 years. All the patients have a proximal humeral osteotomy above the deltoïdien V with a desinsertion of the Subscapularis and to the transfer of the Latissimus Dorsi and Teres Major, realized by a single posterior approch. RESULTS: After a mean follow up of 48 month a frank aesthetic and functional improvement was noted in every case. CONCLUSION: The importance of retraction for an advanced age, made that an humeral osteotomy of external derotation is necessary. Have a practice above the deltoïdien V it allows to improve at the same time the external rotation and the abduction due to the lateral translation of the deltoid. This last one is strengthen by the désinsertion of a retracted Subscapularis and levying of the co-contractions of the Latissimus Dorsi and Teres major with the deltoid almost constant.
Subject(s)
Brachial Plexus Neuropathies/surgery , Muscle, Skeletal/surgery , Osteotomy/methods , Paralysis, Obstetric/surgery , Adolescent , Child , Child, Preschool , Female , Humans , Male , Orthopedic Procedures/methods , Retrospective StudiesABSTRACT
OBJECTIVE: Bowing of the legs is usually thrown into the basket of vitamin D deficiency rickets; therefore, a significant number of affected children can be misdiagnosed and improperly managed. This case illustrates how the careful clinical and radiological assessment of such a case can lead to the adequate understanding of its etiology. DESCRIPTION: We report a sporadic case of a 2-year-old male child who presented with radiological features that were compatible with Weismann-Netter-Stuhl syndrome. In addition, we observed craniovertebral malformation complex. He was of normal intelligence. To our knowledge, the combination of Weismann-Netter-Stuhl syndrome and presence of a hypoplastic occipitalized atlas and further C2-C3 fusion has not been reported before. The diagnosis of Weismann-Netter-Stuhl is discussed. Classically, Weismann-Netter-Stuhl syndrome is characterized by short stature, mental retardation (in some individuals), dural calcification, and anterior bowing of the tibiae. However, we believe that careful clinical and radiological examinations can reveal more striking data which might positively reflect on the whole process of management. COMMENTS: We postulate that the congenital limitations in neck movements in our patient developed because of the marked fusion of the hypoplastic and occipitalized atlas and simultaneous C2-C3 fusion. Therefore, if this form of malformation is disregarded, there may be involvement of the atlantoaxial structure, and this can possibly lead to serious neurological and even life-threatening complications. The use of CT scanning for the detection of such abnormalities can be remarkably important.
Subject(s)
Abnormalities, Multiple/diagnostic imaging , Atlanto-Axial Joint/abnormalities , Leg Length Inequality/diagnostic imaging , Musculoskeletal Abnormalities/diagnostic imaging , Skull/abnormalities , Abnormalities, Multiple/etiology , Child, Preschool , Fibula/abnormalities , Humans , Leg Length Inequality/etiology , Male , Syndrome , Tomography, X-Ray Computed , Vitamin D Deficiency/complicationsABSTRACT
OBJETIVO: O arqueamento das pernas geralmente é atribuído ao raquitismo causado pela carência de vitamina D; portanto, várias crianças afetadas acabam sendo classificadas erroneamente e tratadas inadequadamente. Este caso ilustra como uma avaliação clínica e radiológica cuidadosa pode levar à elucidação de sua causa. DESCRIÇÃO: Relatamos um caso esporádico de um menino de 2 anos de idade que apresentou achados radiológicos compatíveis com síndrome de Weismann-Netter-Stuhl. Além disso, observamos o complexo de malformação craniovertebral. O paciente possuía inteligência normal. Até onde sabemos, a combinação de síndrome de Weismann-Netter-Stuhl e occipitalização do atlas hipoplásico e posterior fusão das vértebras C2 e C3 nunca foi relatada antes. Descrevemos o diagnóstico da síndrome de Weismann-Netter-Stuhl. As características clássicas da síndrome de Weismann-Netter-Stuhl são baixa estatura, retardamento mental (em alguns indivíduos), calcificação da dura-máter e arqueamento anterior da tíbia. Todavia, acreditamos que um exame clínico e radiológico cuidadoso possa revelar dados mais contundentes que poderiam influenciar positivamente o processo de tratamento. COMENTARIOS: Presumimos que as limitações congênitas dos movimentos do pescoço em nosso paciente surgiram por causa da fusão acentuada do osso occipital ao atlas hipoplásico e da fusão simultânea da segunda e terceira vértebras. Portanto, se desconsiderarmos esse tipo de malformação, a estrutura atlanto-axial poderá ser comprometida, o que poderá causar complicações neurológicas sérias e até mesmo fatais. A tomografia tem um papel crucial na detecção dessas anormalidades.
Subject(s)
Humans , Male , Female , Child, Preschool , Abnormalities, Multiple/radiotherapy , Atlanto-Axial Joint/abnormalities , Bone Diseases, Developmental , Leg Length Inequality/etiology , Skull/abnormalities , Abnormalities, Multiple/etiology , Bone Diseases, Developmental/etiology , Fibula/abnormalities , Leg Length Inequality , Syndrome , Tomography, X-Ray Computed , Vitamin D DeficiencyABSTRACT
STUDY DESIGN: A family study to reach the diagnosis of a multiple malformation syndrome. OBJECTIVE: To determine the cause of torticollis, in a patient with the VATER association. SUMMARY OF BACKGROUND DATA: The VATER association is a combination of vertebral anomalies, anal stenosis, tracheo-esophageal fistula, and radial anomalies. It needs a multidisciplinary approach with a major input from orthopedic surgeons. Torticollis in this condition has not been reported before. METHODS: Detailed family history and radiologic study using plain radiographs and three-dimensional-reconstruction. RESULTS: Bony abnormalities at the base of the skull and upper cervical vertebrae were found. CONCLUSIONS: It is postulated that the bony abnormalities were the underlying cause of the neurologic problem.
Subject(s)
Abnormalities, Multiple , Anus, Imperforate/complications , Cervical Vertebrae/abnormalities , Radial Artery/abnormalities , Skull Base/abnormalities , Torticollis/congenital , Torticollis/etiology , Tracheoesophageal Fistula/complications , Abnormalities, Multiple/diagnosis , Cervical Vertebrae/diagnostic imaging , Child , Female , Humans , Image Processing, Computer-Assisted , Skull Base/diagnostic imaging , Syndrome , Tomography, X-Ray ComputedABSTRACT
We report an inbred Tunisian family, in which the proband manifested signs of hypohidrotic ectodermal dysplasia, subtotal amelia, scoliosis and left renal agenesis. Two other family members had the full clinical criteria of hypohidrotic ectodermal dysplasia, characterized by deficient sweat glands, hypodontia, hypoplasia of the mucous glands, and fine hair. Nine family subjects had variable clinical expression of the disorder.
Subject(s)
Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive/genetics , Ectromelia/genetics , Genetic Diseases, Inborn/physiopathology , Child , Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive/physiopathology , Humans , Male , TunisiaABSTRACT
Kyphoscoliosis is a complication of some bone dysplasias, including Cleido-cranial dysplasia (CCD). We report on massive spinal dysplasia secondary to severe spinal dyssygmentation associated with marked defective ossification of the ischium, detected in a Tunisian female child with a severe form of Cleido-cranial dysplasia. Literature review on Cleido cranial dysplasia and associated spinal abnormalities showed no previous similar reports as encountered in our patient