Tibial hemimelia is a rare congenital anomaly, occurring approximately in 1 per 1million live birth and consisting of aplastic/hypoplastic tibia with relatively intact fibula. The widely used classification was proposed by Jones and based on radiological description: type I: tibia absent, type II distal tibia not seen, type III proximal tibia not seen, type IV tibio-fibular diastases. This congenital deformity can be unilateral or bilateral and isolated, or unilateral or bilateral and associated with other malformation witch raise its genetic cause. We are reporting the cases of two monozigotic twins reflecting the “intragenotic” expression variability of the syndrome of tibial aplasia and ectrodactyly. The two monozigotic female twins are born after an unremarkable first pregnancy and delivery. Family history was positive for malformations.(syndactily, split hand, phocomelia(elbow) and hip dyspasia) Twin 1: Left leg: tibial aplasia type Ia, short femur, absent patella. Right leg: tibial aplasia type IV, clubfoot, hypoplasia of the internal ray. Left hand: split hand. Twin 2: Left leg: nornal. Right leg: tibial aplasia type II, clubfoot. Left hand: split hand. Most of the cases are unilateral and sporadic. 4 autosomal dominant tibial hemimelia syndromes are described
tibial hemimelia-foot polydactyly-triphangeal thumbs syndrome, tibial hemimelia diplopodia syndrome, tibial hemimelia-split-hand foot syndrome, tibial hemimelia micromelia-oigonobrachycephaly syndrome. This is the first documennted case of monozigotic twins affected by the Tibial hemimelia-split-hand foot syndrome. Their clinical presentation demonstrates that the phenotypic manifestations are highly variable.
Between 1964 and 2002, 26 pairs of conjoint twins were recorded at the Red Cross Hospital. The available radiographs and notes were reviewed, with specific attention to the incidence of spinal anomalies that result in scoliosis. Structural scoliosis was noted to occur only in the ischiopagus and pygopagus subsets, namely those joined by the pelvic outlet and the rump respectively. The abnormalities were largely those of failure of formation, with early onset of severe deformity. The hemi-vertebrae were often remote to the area of conjunction, mostly in the thoracic area. All six ischiopagi had vertebral abnormalities, with two of the four pygopagi demonstrating abnormalities. There were associated lower limb neurological abnormalities in the ischiopagi. The association of conjoint twinning and vertebral anomaly is currently thought to be due to non-specific teratogenic insult with hypoxia. The fact that the ischiopagus and pygopagus are involved is important: these groups constitute up to 45% of survivors and are reported to have a longer life expectancy. Because they will later develop severe deformities, they need early active management.
The purposes of this study were to investigate whether twins and multiple births have a higher incidence of Developmental Dysplasia of the Hip (DDH), and whether universal ultrasound scanning would be beneficial in this population. Records of all twin and multiple births between 1st January 2004 and 31st December 2008 at Addenbrooke's Hospital were obtained. Information regarding sex, gestation, birth weight, DDH risk factors, results of the neonatal hip examination and of any ultrasound scans were analysed. The incidence of DDH in singletons born during the same period was calculated from birth records and the DDH database. Of the 990 twin and multiple births, 267 had ultrasound scans. Of those scanned, over 92% had a normal (bilateral Graf I) scan initially. Within the study cohort there was one case of DDH diagnosed on ultrasound and successfully treated with Pavlik harness. There were two cases of late presenting DDH, one at 8 months and one at 14 months old. Both had no risk factors, a normal neonatal examination and consequently had not had an ultrasound scan.Methods
Results
In the litterature patients suffering Mb. Scheuermann (MS) have been reported to experience more back pain and other back related constrains compared to subjects matched for age and sex. We have been unable to find publications on health-related quality of life by SF-12 or SF-36 in MS. The aim of the present study was to compare health-related quality of life status in MS to the background population.
Background and aims:. T2D is postulated to be an important aetiological factor for lumbar disc degeneration (LDD), which itself has a well documented relationship with low back pain. Obesity increases risk of both T2D, low back pain and LDD. Connective tissue modification has been reported in hyperglycaemia, but the epidemiology of LDD in T2D has not been described to date. Methods and results:. A population sample of unselected same-sex adult twin pairs was studied who had attended a spine MR study and completed general health questionnaires defining T2D by self-report. LDD had been coded as the sum of five lumbar discs coded (0–3) for each of height, signal intensity, disc bulge and anterior osteophytes. Risk factors for LDD included age, body-mass index (BMI), sex, alcohol consumption and smoking. Mean age of the 1011 participants = 54 years (sd=8), mean BMI=25 kg/m. 2. (sd=4), 95% female. The prevalence of T2D was 6%.
