1/35. The orthopaedic presentation and management of sjogren-larsson syndrome.sjogren-larsson syndrome is a rare autosomal recessive neurocutaneous disorder in which the combination of spasticity, ichthyosis, and mental retardation commonly result in patients being wheelchair bound. We reviewed a cohort of children with sjogren-larsson syndrome who were successfully managed with early physiotherapy and later soft-tissue surgery. The favourable outcome seen in these patients should encourage orthopaedic intervention in suitable cases.- - - - - - - - - - ranking = 1keywords = soft (Clic here for more details about this article) |
2/35. Idiopathic tumoral calcinosis associated with congenital malformation of the hand. Case report.The authors describe a case of tumoral calcinosis of the hand in a three-year-old child, involving the digits and carpus, and associated with ectrodactyly. The clinical features, diagnostic imaging procedures, particularly radiography and MRI, and therapeutic approach, in most cases radical excision, of this rare soft tissue tumour are discussed.- - - - - - - - - - ranking = 1keywords = soft (Clic here for more details about this article) |
3/35. Semilobar holoprosencephaly, coronal craniosynostosis, and multiple congenital anomalies: a severe expression of the Genoa syndrome or a newly recognized syndrome?We report on a female newborn with holoprosencephaly, craniosynostosis, and multiple congenital anomalies including cloverleaf skull, Dandy-Walker malformation, bilateral microphthalmia, cleft soft palate, congenital scoliosis, hypoplastic nails and coarctation of aorta. Some of these features are consistent with the diagnosis of the Genoa syndrome, (MIM 601370) a rare autosomal recessive disorder recently described. The findings of other serious and previously undescribed malformations, however, raises the possibility of a newly recognized disorder.- - - - - - - - - - ranking = 1keywords = soft (Clic here for more details about this article) |
4/35. A rare association of epidermal nevus syndrome and ainhum-like digital constrictions.Epidermal nevus syndrome is an unusual occurrence of epidermal nevi with central nervous system (CNS), eye, and skeletal developmental abnormalities. We report an as yet undocumented association of generalized epidermal nevus with striate keratoderma, ainhum-like digital constriction, and autoamputation of the right fifth toe in a 10-year-old girl. The excellent response to oral acitretin with softening of the constrictions is also highlighted.- - - - - - - - - - ranking = 1keywords = soft (Clic here for more details about this article) |
5/35. A boy with developmental delay, malformations, and evidence of a connective tissue disorder: possibly a new type of cutis laxa.We report a 7.5-year-old boy with loose translucent skin, aortic dilatation, hyperextensible veins, recurrent respiratory problems, pectus excavatum, arthralgias, lax joints, mild epiphyseal dysplasia, and umbilical and inguinal hernias. He also has developmental delay, progressive bilateral sensorineural hearing loss, an unusual facial appearance, terminal digit hypoplasia with unusual radiographic changes in some of the phalanges, glandular hypospadias, shawl scrotum, and undescended testes. Biochemical investigations, including electrophoresis of Types 1 and 3 procollagens and collagens, and quantification of serum copper and ceruloplasmin, are normal. Relative to age-matched control patients the electron micrographs of the boy's dermis show elastin fibers to be decreased in number, and abnormal in appearance, with a low matrix to microfibril ratio. The organ distribution of abnormalities and the nature of the findings suggest a connective tissue disorder. We contrast and compare this boy's phenotype to those of the classic connective tissue disorders. We conclude that he has cutis laxa with features that distinguish him from previously described types of cutis laxa.- - - - - - - - - - ranking = 79.081258860861keywords = connective (Clic here for more details about this article) |
6/35. Bilateral congenital hypoplastic pulps of the little finger: reconstruction with a neurovascular step-advancement flap.We describe a case of bilateral congenital hypoplastic finger pulps of the little finger in a 6-year-old girl in whom reconstruction with a neurovascular step-advancement flap was used to restore soft tissue padding of the pulps.- - - - - - - - - - ranking = 1keywords = soft (Clic here for more details about this article) |
7/35. Microvascular reconstruction of congenital anomalies and post-traumatic lesions in children.A series of toe-to-hand transfers in children with congenital or post-traumatic deficits is reported to emphasize the role of microvascular reconstruction as an important alternative. morbidity to the donor site is almost negligible, and the functional improvement to the hand is reasonably good considering the young age of the patients. Functional results are limited by the lack of full motion, soft-tissue contractures, sensory recovery, and the delay in cortical reeducation. We were surprised to find a relatively high number of vascular anomalies in the foot (both traumatic as well as congenital). Abnormalities in the transferred toe can limit the function of the hand, and the best (not worse) tissues available should be transferred. The importance of digit positioning to provide prehensile pinch and grasp as the ultimate goal needs to be emphasized so that opposing fingers rather than cosmetic fingers result in effective hand use. We recommend this operative procedure in selected patients along with other reconstructive alternatives, taking care in the selection process to consider factors related to both asthetic improvement of the hand as well as long-term functional return.- - - - - - - - - - ranking = 1keywords = soft (Clic here for more details about this article) |
8/35. A novel MGP mutation in a consanguineous family: review of the clinical and molecular characteristics of Keutel syndrome.Keutel syndrome (KS) [OMIM 245150] is a rare autosomal recessive condition, characterized by abnormal cartilage calcification. Mutations in the matrix Gla protein gene (MGP) have been previously reported in three unrelated KS families. MGP is an extracellular matrix protein that acts as a calcification inhibitor by repressing bone morphogenetic protein 2 (BMP2). Loss-of-function mutations of MGP result in abnormal calcification of the soft tissues, a cardinal feature of KS. We report the fourth MGP mutation (IVS2 1G > A) in a consanguineous Arab family, which results in the loss of the consensus donor splice site at the exon 2-intron 2 junction. In addition to the typical manifestations, we observed abnormalities in the white matter of the brain, optic nerve atrophy, and mid-dermal elastolysis in the affected individuals of this family. This report broadens the clinical phenotype observed in patients with KS. The effect of the IVS2 1G > A mutation is consistent with the previously reported loss-of-function mutations of MGP.- - - - - - - - - - ranking = 1keywords = soft (Clic here for more details about this article) |
9/35. proteus syndrome: a rare cause of hemihypertrophy and macrodactyly on bone scanning.proteus syndrome is a rare, sporadic genetic disorder characterized by overgrowth of multiple different tissues in a mosaic pattern. It is associated with connective tissue nevi, epidermal nevi, disproportionate overgrowth of multiple tissues, vascular malformations, characteristic tumors, and specific facial anomalies. Joseph Merrick, popularly known as the Elephant Man, is now believed to have suffered from proteus syndrome. A case of proteus syndrome and associated findings on bone scintigraphy are presented.- - - - - - - - - - ranking = 13.180209810144keywords = connective (Clic here for more details about this article) |
10/35. An unusual association of the windblown hand with upper limb hypertrophy.An eight-year-old boy presented with a congenital windblown hand deformity associated with partial hypertrophy of that arm. Many of the classical features of the windblown hand syndrome described in previous papers were absent. In this case, the primary cause of the ulnar-drift deformity was an anomalous epiphysis at the base of the second metacarpal. Surgical correction was readily obtained by osteotomy at the base of the metacarpal combined with soft tissue re-alignment.- - - - - - - - - - ranking = 1keywords = soft (Clic here for more details about this article) |
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