One in three: congenital bent bone disease and intermittent hyperthermia in three siblings with Stuve-Wiedemann syndrome

Stuve-Wiedemann syndrome [STWS] is a rare disorder characterised by congenital bowing of the long bones, contractures of the joints, neonatal onset of respiratory distress, sucking and swallowing difficulties, dysautonomia presenting as episodic hyperthermia, and usually an early death. Three siblings from a consanguineous marriage presented with similar clinical features over 16 years. STWS was established with their last child at the beginning of 2012. All the children exhibited the onset of STWS in the neonatal period with fever and generalised hypotonia. Examinations of all the infants revealed camptodactyly, micrognathia, bent long bones with wide metaphyses, and hypotonia. Only the second affected child had myotonia, demonstrated by electromyography. Unusual pyrexia as a presenting feature in this syndrome needs early recognition so that extensive and elaborate investigations can be avoided. The disorder is usually caused by a mutation in the leukaemia inhibitory factor receptor gene

Use of Allograft in Skeletally Immature Patients for Calcaneal Neck Lengthening Osteotomy

PURPOSE: To date, there have been no studies evaluating the usefulness of allograft as a substitute for autograft in calcaneal neck lengthening osteotomy. This retrospective study examined the results of calcaneal neck lengthening osteotomy using allograft for pathologic flatfoot deformity in children and adolescents with various neuromuscular diseases. MATERIALS AND METHODS: 118 feet in 79 children treated surgically between Mar 2000 and July 2005 were reviewed. The mean age at the time of the operation was 9+3 years (range, 3-17 years) and follow-up averaged 15.4 months (range, 13-21 months) postoperatively. Talo-1st metatarsal angle, talo-calcaneal angle, calcaneal pitch were measured before and after operation and bony union was estimated. RESULTS: Bony union was noted at the latest follow-up and there were no postoperative complications such as reduction loss, infection, nonunion, delayed union or graft loss during the follow-up period in all but one foot. All radiographic indices were improved postoperatively in all cases. CONCLUSION: Our results indicate that use of allograft in calcaneal neck lengthening osteotomy is a useful option for correction of the planovalgus deformity in skeletally immature patients whose enough autobone can not be obtained.

Sifilis congenita precoz / Early congenital bone syphilis

Se presenta un analisis de 25 casos de pacientes portadores de sifilis osea congenita tratado en el Servicio de Ortopedia y Neonatologia del hospital Materno Infantil German Urquidi, Cochabamba-Bolivia durante el periodo de 1990 a 1994. Se demuestra que los recien nacidos, fueron prematuros y de bajo peso al nacer. El 84 tenia menos de tres meses de edad y el 16 hasta 6 meses. El 40 correspondio al sexo masculino. Presentaban alteraciones oseas a nivel de los huesos largos y cilindricos, mostrando un cuadro clinico y radiologico tipico. La importancia de la profilaxis de la enfermedad radica en el control prenatal para combatir la morbi mortalidad.

Profile of congenital cholesteatomas of the petrous apex.

Congenital cholesteatomas of the petrous apex are now frequently being approached by otologists. Involvement of the cerebello pontine angle by this lesion produces a myriad of signs and symptoms. Otological as well as neurosurgical literature is reviewed to achieve an overall understanding of the nature and behaviour of this uncommon but interesting lesion.