Prenatal Diagnosis of Restrictive Dermopathy.

We report three cases of Restrictive dermopathy from unrelated families. All were small for gestational age with small eyes and open mouth. Taut, stretched skin caused restriction of movements. Clavicular hypoplasia was a consistent radiological feature. Molecular diagnosis in the parents facilitated prenatal diagnosis from chorionic villous sample (CVS) in the subsequent pregnancy.

Restrictive dermopathy. Molecular diagnosis of restrictive dermopathy in a stillborn fetus from a consanguineous Iranian family

Restrictive dermopathy RD, is an autosomal recessive lethal human genetic disorder. It is characterized by intrauterine growth retardation, tight and rigid skin with erosions, multiple joint contractures, lung hypoplasia, prominent superficial vasculature, and epidermal hyperkeratosis. In the present report, we describe the first case of restrictive dermopathy in a stillborn fetus of Iranian origin, confirmed by molecular genetic diagnosis. In the index case G-30159, a homozygous one base insertion in ZMPSTE24 exon 9 c.1085-1086insT was identified.We believe that by increasing awareness of this disease in clinicians, gynecologists, and pathologists, we may be able to help families who have had suspected cases of restrictive dermopathy be diagnosed, and offer molecular testing in carriers, and prenatal diagnosis to prevent the occurrence of further affected cases

Treatment of Popliteal Pterygium Using an Ilizarov External Fixator

Popliteal pterygium syndrome is a rare congenital disorder that consists of popliteal webs and craniofacial, genitourinary and extremity anomalies. Only moderate successful surgical excision of the fibrotic band within the popliteal web has been reported because the nerves and vessels in the affected site are short and displaced into the web and they are attached to adjacent tissues. We performed hamstring tenotomy on the ischial tuberosity, tenotomy of the flexor hallucis longus and Z-lengthening of the Achilles tendon on the ankle in our patient, and this was followed by gradual correction using an Ilizarov external fixator. Full extension of the knee joint was achieved at the ninth postoperative week. However, some recurrence of flexion contracture was noted at two years follow-up. Gradual soft tissue lengthening with an Ilizarov external fixator can be one of the optimal procedures when excision of a fibrous band and Z-plasty are not possible due to severe adhesion of the nerves and vessels into a fibrotic band. However, a cautious approach is recommended when considering the high risk of recurrence.

Artrogripose múltipla congênita: relato de caso / Arthrogryposis multiplex congenita: report case

A artrogripose congênita é um termo que designa um grupo de alterações congênitas, caracterizada por rigidez e contratura de múltiplas articulações. A síndome acarreta dificuldades de ordem física, psicológica e social nos portadores. O estudo descreve o caso de uma criança com este diagnóstico, atendida por diferentes especialidades que compõem a equipe de reabilitação física, adquirindo assim, melhor desempenho funcional nas atividades de vida diária e de vida prática.O objetivo do trabalho é demonstrar, mais especificamente, a contribuição da terapia ocupacional neste processo e, a utilização do Pediatric Evoluation of Disability Inventory como recurso para avaliação dos desempenhos funcionais

Congenital contractural arachnodactyly with neurogenic muscular atrophy: case report

We report the case of a 3-1/2-year-old girl with hypotonia, multiple joint contractures, hip luxation, arachnodactyly, adducted thumbs, dolichostenomelia, and abnormal external ears suggesting the diagnosis of congenital contractural arachnodactyly (CCA). The serum muscle enzimes were normal and the needle electromyography showed active and chronic denervation. The muscle biopsy demonstrated active and chronic denervation compatible with spinal muscular atrophy. Analysis of exons 7 and 8 of survival motor neuron gene through polymerase chain reaction did not show deletions. Neurogenic muscular atrophy is a new abnormality associated with CCA, suggesting that CCA is clinically heterogeneous

Correction of severe congenital knee contracture a technique of soft tissue release and femoral shortening

Two cases of children with severe bilateral congenital knee contracture due to arthrogryposis multiplex congenita that were managed by a one-stage operation for correction of their knee contracture are reported. Both had bilateral flexion deformities of the knee of about 140 degrees that prevented them from standing upright or walking. The surgical procedure included a posterior soft tissue release with shortening of the femur, internal fixation and skin grafting. Satisfactory correction was obtained in both patients and they were able to walk independently