[Epidermodysplasia verruciformis associeted with congenital osseous dysplasia: Fortuitous association or common genetic determinism?]

Epidermodysplasia verruciformis [EV] is a rare recessive autosomal genetic disorder of the immune system characterized by increased susceptibility to cutaneous Human papilloma virus infection. We report a case of an EV associated with a congenital osseous dysplasia and complicated by an epidermoid carcinoma. EV could be associated with others genetics diseases as the chondrodysplasia and the neurofibromatosis. No case has been reported in the literature, associating EV and congenital osseous dysplasia

Congenital osteofibrous dysplasia of the tibia, associated with pseudoarthrosis of the ipsilateral fibula

We describe an otherwise normal male neonate who presented shortly after birth with rare congenital osteofibrous dysplasia of the right tibia associated with pseudoarthrosis of the ipsilateral fibula. The lesion was curetted, and the defect was packed with a fibular bone graft from the other leg. Histopathological examination was typical for osteofibrous dysplasia. The ipsilateral fibular pseudoarthrosis was observed with no active intervention. Seven years follow-up showed good functional recovery without recurrence of the lesion. The case is a new presentation of congenital osteofibrous dysplasia, and is presented to draw attention to this rare condition that must be considered in the differential diagnosis of congenital lesions of the tibia

Jarcho-Levin syndrome.

Jarcho-Levin syndrome is an eponym that represents a spectrum of short trunk skeletal dysplasias with variable involvement of the vertebrae and ribs. Initially considered to be lethal, it is now accepted as compatible with life in its milder presentations. Here are reported two neonates with the lethal variety of this syndrome. One neonate had associated anomalies like hydrocephalus, hydroureteronephrosis and meningomyelocoele while the other had no additional anomalies. Also is reviewed the literature regarding this less understood disorder focusing on the applied clinical aspects that have stemmed out from the recent molecular research.

A novel nonsense mutation, E150X, in the SOX9 gene underlying campomelic dysplasia

Campomelic dysplasia (CD) is an autosomal dominant skeletal malformation syndrome with features including bowed lower limbs with pretibial skin dimpling, hypoplastic scapulae and pelvic bones, and 11 pairs of ribs. Mutations in the SOX9 gene have been identified to cause CD. The gene encodes a transcription factor containing a dimerization, a high mobility group, and a C-terminal transactivation (TA) domain. Up to now, 35 SOX9 mutations have been published. In the present study, we describe a Thai girl with clinically and radiologically typical CD. Direct sequencing analysis of the PCR products for the entire coding region of SOX9 revealed that she was heterozygous for a novel 448G > T in exon 2 of SOX9. The DNA change was expected to result in E150X and loss of the entire TA domain. This result further supports that SOX9 is the only gene, discovered to date, responsible for CD across different populations and that the TA domain is important to the function of the normal SOX9.

Osteotomía innominada de Salter y cotiloplastía de Michel Salmon en la luxación congénita de cadera. Experiencia de 30 años / Salter innominate osteotomy and the Michel-Salmon classic shelf for treatment of developmental dysplasia of the hip. Our 30-year experience

Se presenta un estudio comparativo entre dos procedimientos quirúrgicos realizados para el tratamiento de la displasia acetabular en 48 pacientes con displasia de desarrollo de la cadera, que fueron tratados entre 1964 y 1994. Los enfermos se distribuyeron en 2 grupos, en el primero, a 27 se les hizo osteotomía iliaca tipo Salter con un índice acetabular en promedio de 34 grados (DE 5.6 grados). Después de un periodo de 6.4 años en promedio de postoperatorio el índice acetabular fue de 22 grados (DE 4 grados). El segundo grupo estuvo integrado por 27 enfermos a quienes se les hizo la cotiloplastía de Michel-Salmon, con un índice acetabular preoperatorio de 30 grados en promedio (DE 4.3 grados) y postoperatorio de 20 grados (DE 4.1 grados)

Skeletal dysplasias in a hospital in southern India.

A hospital based study of skeletal dysplasias was conducted over a period of 2 years in Davangere, Karnataka, in which 169 cases of skeletal dysplasias were studied. One hundred were osteochondrodysplasias and were grouped according to international classification of osteochondrodysplasias. Among the individual cases, osteogenesis imperfecta (13 cases) had the maximum representation. Several cases of rare disorders were also identified. Eighty eight cases of skeletal dysplasias were in the pediatric age group and of these 41 were newborns. The incidence of skeletal dysplasia among newborns was 19.6 per 10,000 deliveries and lethal dysplasias 5.2 per 10,000 deliveries. In 7 cases of skeletal dysplasia, an antenatal diagnosis was possible by ultrasonography.

Síndrome de CHILD (hemidisplasia congênita com eritrodermia ictiosiforme e defeito de membros): relato de caso / Child's syndrome (congenital hemidysplasia with icththyosiform erythroderma and limb defects): a case report

Relato de caso de uma criança apresentando síndrome de CHILD (hemidisplasia congênita com eritrodermia ictiosiforme e defeito nos membros). Aparentemente a presença de um gene mutante no cromossomo X levaria a distúrbio no metabolismo de fibroblastos da pele, tendo como consequência displasias e anomalias cutâneas, esqueléticas e viscerais