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PubMed2004

[Progressive spastic paraplegia as a presentation of oculodentodigital syndrome].

Oculodentodigital syndrome (ODD) is a rare congenital disorder which associates eyes and facial abnormalities, defects in teeth enamel and type III syndactyly. The causal genetic defect in this syndrome is still unknown. Some patients with ODD syndrome also manifest spastic paraparesis. In most cases, inheritance is autosomal dominant with variable clinical expression. Herein, we report on a patient with ODD syndrome, who was referred for evaluation of spastic paraplegia. Our observations show that ODD syndrome can be recognized in late adulthood and revealed by spastic paraplegia.

Abnormalities, Multiple↗
PubMed1981

Congenital hand anomalies, and their association with other congenital abnormalities.

Congenital abnormalities of other parts occurring in patients with congenital abnormalities of the hand were studied. Hands and feet often showed similar anomalies, but there were cases in which the hands and feet had different kinds of deformity. Anomalies of the internal organs were associated with anomalies of the thumb. Cleft lip and palate occurred in combination with syndactyly, split hand, preaxial polydactyly and construction ring syndrome. Combined anomalies may be the result of a genetic or environmental factor interfering with parts developing during the same critical period. The critical period and probable pathogenesis are discussed and the conclusion reached that mesenchymal necrosis, abnormal distribution of mesenchyme and tissue necrosis after mesenchymal condensation may be the pathological changes which lead to abnormal development of the hand.

Abnormalities, Multiple↗
PubMed1982

Apert's syndrome--a report of five cases.

This report presents five cases of Apert's syndrome with features of acrocephaly, characteristic face and complete syndactyly of the hand and foot with bony fusion. Three cases out of five showed preaxial polydactylies of the foot, considered to be one of the characteristic features of Carpenter's syndrome. In the remaining two cases, the first digital ray of the foot was broad and deformed. In addition one case had a postaxial polydactyly of the hand. Three cases showed severe deformity of the shoulder; two had dysplasia and one had synchondrosis of the glenohumeral joint. On the basis of our findings in this, we feel that there is much phenotypic overlap between Apert's and Carpenter's syndrome. A polydactylous presentation of the hand and foot can be found in not a few cases of Apert's syndrome and it is not always an exclusive feature of Carpenter's syndrome.

Acrocephalosyndactylia↗
PubMed1985

Cicatricial junctional epidermolysis bullosa.

Six types of junctional epidermolysis bullosa (JEB) have been described previously. Each of these types may develop atrophy after recurrent blistering but healing with scar formation does not occur. We describe three cases with a new type of JEB that we have designated as cicatricial junctional epidermolysis bullosa (CJEB). This type is characterized clinically by blisters that heal with scarring and may result in syndactyly and contractures and by stenosis of the anterior nares. These cases were all believed to represent a dystrophic type of epidermolysis bullosa (EB) clinically and emphasize the necessity for electron microscopy of the skin in all EB patients with dystrophic features in order to make a definite diagnosis as to type. Electron microscopy revealed junctional bullae associated with rudimentary hemidesmosomes. Breaks in the basement membrane were noted in addition to active fibroblastic proliferation and laying down of new collagen.

Adult↗
PubMedDate not supplied

Sclerosteosis involving the temporal bone: clinical and radiologic aspects.

Sclerosteosis is one of the rare, potentially lethal, autosomal recessive, progressive, craniotubular sclerosing bone dysplasias. Syndactyly of the second and third or other fingers is evident at birth. Hyperostosis and sclerosis are most prominent in the skull and tubular bones, and are frequently associated with excessive height and weight. The typical facial deformity is apparent by the age of 5 years. The changes involving the temporal bone include a marked increase in overall dimensions, extreme sclerosis, and narrowing and constriction of the external ear canal, middle ear cleft, internal acoustic meatus, and falloppian canal. Impairment of hearing, as a rule bilateral, is a frequent presenting symptom which may manifest in early childhood. Initially it is an expression of interference with sound conduction; later it may become associated with a loss of sound perception. Impairment of facial nerve function is another salient feature which occasionally is present at birth. As a rule, it manifests initially as a unilateral, recurrent paresis, eventually progressing to a bilateral permanent partial loss of facial nerve function. Since impairments of hearing and facial nerve function are two of the salient features, present at birth or in early childhood, the responsibility for recognizing the disease often falls upon the otolaryngologist. The clinical and radiologic features permit not only early recognition of the disorder but also differentiation from similar bony dysplasias. Hyperosteosis and sclerosis of the skull lead to thickening and distortion of the calvaria, cranial base, and foramen magnum resulting in reduction of the intracranial volume, interference with the cerebral blood flow, resorption of cerebrospinal fluid, and gradual increase of intracranial pressure. Severe headaches resulting from this mechanism often develop in early adulthood, and several patients have died suddenly from impaction of the medulla oblongata in the foramen magnum. Decompression of the transverse sigmoid sinus and jugular bulb may be lifesaving, combined with a posterior, and if necessary, an anterior, craniectomy for decompression. Early decompression of the internal acoustic meatus and falloppian canal may help in the preservation of cochlear and facial nerve function.

Adult↗
PubMed2005

[Smith-Lemli-Opitz syndrome].

SLO syndrome is an autosomal recessive condition with multiple malformations. This syndrome is ascribed to deficiency of 7 dehydrocholesterol reductase, an enzyme in the cholesterol biosynthetic pathway. The characteristics of this syndrome are facial anomalies, syndactyly of the second and third toe, postaxial polydactyly and genital anomalies with sexual ambiguity. We report a fetal case with intrauterine growth retardation, genital anomalies, multiple malformations with cardiac anomalies, renal aplasia and facial anomalies detected by prenatal ultrasound. Medical abortion was induced at 24 weeks gestation. The diagnosis was considered after complete pathologic examination and biochemical analysis.

Abortion, Induced↗
PubMed1977

Congenital triangular bones in the hand.

From the literature we found reports of 105 patients whom we judged had a triangular deformity of one of the bones of the hand or foot. We found 49 patients of our own with 84 delta-shaped phalanges limited strictly to the hand. This represents an incidence of 3.5% of our congenital abnormalities of the upper extremity. The deformity is associated with many abnormalities: syndactyly, polydactyly, symphalangism, triphalangeal thumb, cleft hand, and hypoplastic hand are the most frequent Triangular deformity of the bone of the index finger usually is associated with Apert's syndrome. Triangular deformity of the proximal phalanx of the ring finger often is found with central polydactyly. Our average follow-up time on these 49 patients was 14 years, giving us a chance to establish some guidelines and general rules about the natural history and treatment of the delta bone.

Abnormalities, Multiple↗
PubMed1983

The hand in the Pierre Robin syndrome.

In reviewing eight cases of children with the Pierre Robin syndrome, we found three cases to have abnormalities of the extremities such as syndactyly, hypoplastic digits, and a Poland syndrome. These hand abnormalities have not been previously emphasized in patients with the Pierre Robin syndrome.

Abnormalities, Multiple↗
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↗
PubMed1986

Brachymetacarpia and brachyphalangia.

The x-ray features of 325 patients, with shortening of the metacarpals and/or phalanges were analyzed. Most patients with congenital hand anomalies (syndactyly, cleft hand, etc.) had a shortened middle phalanx of the small finger only; however, some patients also had a shortened middle phalanx of the index finger. The patients with brachymesophalangia of two and five rays also had a tendency to have shortened middle phalanges of the index and small fingers. Some patients' anomalies, such as shortening of the middle phalanges in both the index and small fingers, did not adequately fit Bell's classification. The patients who had shortened metacarpals sometimes also had shortened middle and distal phalanges and a shortened metatarsus. Combinations of shortened phalanges and/or metacarpals were so numerous that it was impossible to fit them into any simple classification.

Adult↗
PubMed1988

The carpal bones in congenital hand anomalies: a radiographic study in patients older than ten years.

Abnormalities of the carpal bones in 192 anomalous hands of 154 patients older than 10 years were examined. Judging from the time of appearance of the pisiform, there was no delay of carpal bone maturation in these anomalies. There were differences between the carpal bones of three distinct groups: which included central polydactyly, syndactyly, and typical cleft hand; the group which included radial and ulnar deficiency, and the group which included symbrachydactyly and transverse defect. This suggests that there were differences between these groups in the timing and degree of injury to the limb bud or the hand plate in the course of development. It is thought that the first group originates from maldistribution of mesenchymal tissue of the limb bud (or of the apical ectodermal ridge), the second group from defects of that tissue, and the last group from defects of the mesenchymal tissue of the hand plate.

Adolescent↗
PubMed1998

Hypomelanosis of ITO. A study of 76 infantile cases.

We show the complications observed in a large series of children with hypomelanosis of Ito (HI) or incontinentia pigmenti achromians, studied in a neurology service over 30 years. Of the 76 patients, 35 were male (46%) and 41 female (54%) with ages ranging from newborn to 10 years at the time of the first visit. They were thoroughly studied from the clinical, genetic, psychological, neuroradiological, with computed tomography (CT) and/or magnetic resonance imaging (MRI), and electroencephalographic (EEG) points of view. Mental retardation was observed in 43 cases (57%) of whom eight (10%) showed autistic behavior; 16 (21%) were borderline and only 17 (22%) had a normal mental level (IQ > 85). Thirty-seven patients (49%) had seizures, consisting of infantile spasms in six cases (8%). Twelve cases showed macrocephaly and coarse facies, six had microcephaly, and 14 showed hypotonia with pes valgus and genu valgus. Three cases of cerebellar hypoplasia, another of intracranial arteriovenous malformation and another of distal spinal muscular atrophy were observed as well. Some other anomalies, such as syndactyly, clinodactyly, abnormalities of the skeleton, asymmetry of the facies, ears, body and/or extremities, gynecomastia and asymmetrical breasts, short stature, oral alterations, congenital cardiopathies and genital anomalies, were also occasionally found. Three children died, but necropsy was performed only in one. Anatomical and histological studies did not disclose specific findings.

Alopecia↗
PubMed1995

Klippel-Trénaunay syndrome with multiple pulmonary emboli--an unusual cause of progressive pulmonary dysfunction.

A 32-year-old man with progressive dyspnea and congenital lymphedema was transferred to our hospital for evaluation as a lung transplant candidate with the suspected diagnosis of primary pulmonary hypertension. Evaluation revealed the additional history of previous limb-shortening procedures for the left leg, the presence of syndactyly, long-standing bilateral (left to right) lower extremity varices, as well as soft tissue asymmetry with the left leg and arm larger than the right-sided counterparts. A diagnosis of Klippel-Trénaunay syndrome was made on the basis of these findings. Because of the deep venous malformations known to occur in this syndrome, we sought evidence of recurrent pulmonary emboli as an explanation for the patient's progressive dyspnea, despite negative pulmonary arteriography and ventilation-perfusion scanning results at another institution. Repeat pulmonary arteriography demonstrated evidence of chronic and subacute pulmonary emboli. The patient is presently being treated with warfarin anticoagulation, with plans for placement of a caval filter if anticoagulation alone is insufficient to prevent further embolism. Klippel-Trénaunay syndrome is a rare cause of chronic pulmonary emboli, and this entity should be considered when the characteristic historical and physical findings are present. A case report and review of the syndrome, with particular focus on the aspects relevant to the vascular surgeon, are presented.

Adult↗
PubMed1994

[Palmar burns of the hand in children. 81 cases].

The authors reviewed 81 children between the ages of 5 months and 3 years suffering from palmar burns of hands from 1988 to 1992. Most burns were unilateral (53), superficial 2nd degree (48), due to contact (55), in boys (48) and only affecting the palm (69). The initial treatment consisted of directed healing followed by a split-skin graft in 8 cases. The initial scar was not retracted in 58 cases, retracted in 17 cases and hypertrophic in 8 cases. 79% of children had no sequelae at 12 months. At more than three years, 15% of children (12) had sequelae: 9 adhesions of the first commissure, 5 flexion deformities of long fingers, 3 clinodactylies, 1 syndactyly. All were operated by trident plasties, Colston flaps or full-thickness skin graft. A final functional assessment was performed. 90% of children had no sequelae. Four children still presented moderate functional discomfort (3 adhesions of the first commissure requiring reoperation, one case of decreased sensitivity). Palmar burns in children have a good prognosis. Factors of severity are: involvement of the 1st commissure, associated dorsal burn, deep 2nd degree, poor social conditions, delayed management.

Burns↗
PubMed2002

The synpolydactyly homolog (spdh) mutation in the mouse -- a defect in patterning and growth of limb cartilage elements.

We have investigated the recessive mouse mutant synpolydactyly homolog (spdh) as a model for human synpolydactyly (SPD). As in human SPD, the spdh phenotype consists of central polydactyly, syndactyly and brachydactyly and is caused by the expansion of a polyalanine encoding repeat in the 5' region of the Hoxd13 gene. We performed a detailed phenotypic and functional analysis of spdh/spdh embryos using skeletal preparations, histology, in situ hybridization, BrdU labeling of proliferating cells, and in vitro expression studies. The absence of normal phalangeal joints and the misexpression of genes involved in joint formation demonstrate a role for Hox-genes in joint patterning. The spdh mutation results in abnormal limb pattering, defective chondrocyte differentiation, and in a drastic reduction in proliferation. Abnormal chondrocyte differentiation and proliferation persisted after birth and correlated with the expression of the mutant Hoxd13 and other Hox-genes during late-embryonic and postnatal growth.

Animals↗
PubMed2002

[The posterior interosseous flap in the child: 13 case reports].

INTRODUCTION: The posterior interosseous flap is used to cover skin defects in the hand, wrist, forearm and elbow. It is currently, commonly indicated for adults, but it may be used for child too. MATERIALS AND METHOD: Twelve children underwent a posterior interosseus flap (13 flaps). Their ages ranged from 3 to 17.5 years with a mean of 6.5 years. There were seven boys and five girls. The flaps were used to treat different type of lesions: the most frequent etiology was burn injuries or sequels (nine patients), there were one extravasation of anticarcinogenic agent, one syndactyly and one arthrogryposis. The localizations of the skin loss were the first web space (six patients), the dorsal hand (five patients) and the elbow (two patients). RESULTS: The average of the operation was eighty minutes. The survival of the flaps was excellent. Only one flap had a partial necrosis. CONCLUSION: Posterior interosseus flap may be used in coverage of children's limb. The diameter of the vessels is not a difficulty in the flap dissection. As the adults, the viability of the flap is excellent and allows to cover most of the skin defect of the dorsal hand or elbow.

Adolescent↗
PubMed2003

Split hand foot malformation is associated with a reduced level of Dactylin gene expression.

Split hand foot malformation (SHFM) is a congenital limb malformation presenting with a median cleft of the hand and/or foot, syndactyly and polydactyly. SHFM is genetically heterogeneous with four loci mapped to date. Murine Dactylaplasia (Dac) is phenotypically similar, and it has been mapped to a syntenic region of 10q24, where SHFM3 has been localized. Structural alterations of the gene-encoding dactylin, a constituent of the ubiquitinization pathway, leading to reduced levels of transcript have been identified in Dac. Here, we report a significant decrease of Dactylin transcript in several individuals affected by SHFM. This observation supports a central role for dactylin in the pathogenesis of SHFM.

F-Box Proteins↗
PubMed1988

Receptive fields in the body-surface map in adult cortex defined by temporally correlated inputs.

Receptive fields (RFs) obtained at specific cortical sites can be used to define a topographic map of the body surface in adult mammalian somatosensory cortex. This map is not static, and RFs at particular cortical sites can change in size and location throughout adult life. Conversely, the cortical loci at which a given skin surface is represented can shift hundreds of micrometres across the cortex in the koniocortical field, area 3b (refs 1-12). This plasticity suggests that RFs derive not from rigid anatomical connections, but by the selection of a subset of a large number of inputs. We have proposed that inputs are selected on the basis of temporal correlation 11-15. Here we test this idea by altering the correlation of inputs from two adjacent digits on the adult owl monkey hand by surgically connecting the skin surfaces of the two fingers (the formation of syndactyly). This manipulation increases the correlation of inputs from skin surfaces of adjacent fingers. The striking discontinuity between the zones of representation of adjacent digits on the somatosensory cortex disappeared. These results support the hypothesis that the topography of the body-surface map in the adult cortex is influenced by the temporal correlations of afferent inputs.

Animals↗