background robinow syndrome is a rare congenital disorder with phenotypically heterogeneous abnormalities. two modes of inheritances are known for this syndrome namely autosomal recessive and autosomal dominant. case report we describe here an eighteen-month-old child who had mesomelic short stature, abnormal facial features, clinodactyly, micropenis and vertebral changes which were further sup...

A 14-year-old male high school volleyball player was seen to evaluate right- and left-hand little-finger distal interphalangeal joint deformity and pain. His symptoms began during his second season of competitive play. The distal interphalangeal (DIP) joints of the little fingers flexed 20-30°, and a 10-15° valgus deformity was seen at the same joints. Pain was relieved with rest but returned i...

Body movements require the activity of muscles fired by their motor neurons, controlled and coordinated according to central motor patterns modulated by the sensory feedback. The direct analysis of movements and forces produced by muscular activity can provide useful information into anatomical details of difficult observation. For instance, the analysis of movement trajectories can be used to ...

Tetrasomy Y is a very rare event, especially when it is present in a complete form. It is determined by complex rearrangement of the Y chromosome. Clinical features include psychomotor delay, skeletal abnormalities and facial dysmorphism. We report on a case of prenatal diagnosis of non-mosaic tetrasomy Yp, performed by karyotype and fluorescence in situ hybridization (FISH) on fetal blood. The...

Abstract Aim Syndactyly of the foot is a common congenital abnormality, with an estimated prevalence 1 in 2,000. While thought to be more than hand syndactyly, there considerably less discussion syndactyly literature. We describe our operative approach and postoperative technique for splinting silicone moulds reduce webcreep complication. sought further characterise nature of, outcomes for, cas...

Camptodactyly is a permanent flexion contracture of the fingers at the proximal interphalangeal joints which may be familial or sporadic (Landouzy, I906; Gates, 1946). In practically all instances it affects the little finger. In addition the ring, middle, and index fingers may be involved. It is usually bilateral. Although there is no limitation to further flexion of the fingers, complete exte...

Ring chromosome 6, especially if it is de novo, is a rare occurrence. The phenotype of patients with ring chromosome 6 can be highly variable ranging from almost normal to severe malformations and mental retardation. The size and structure of the ring chromosome as well as the level of mosaicism are important factors in determining the clinical phenotype. Here we report an eight month-old child...

Objective: This report aimed to add our knowledge on the clinical features, diagnosis and management of ring chromosome 15 syndrome. Methods: Case report and literatures review. Results: A 4.5-year-old girl was admitted to our unit because of short stature. She was 86 cm in height and 9 kg in weight. Physical examination showed sparse temporal hair, right simian crease, fifth finger clinodactyl...

Focal musculoskeletal anomalies vary, and can manifest as part of a syndrome or be accompanied by numerous other conditions such as genetic disorders, karyotype abnormalities, central nervous system anomalies and other skeletal anomalies. Isolated focal musculoskeletal anomaly does, however, also occur; its early prenatal diagnosis is important in deciding prenatal care, and also helps in couns...

Holt-Oram syndrome is an autosomal dominant disorder, characterised by skeletal abnormalities of the upper limb associated with congenital heart defect, mainly atrial and ventricular septal defects. Skeletal defects exclusively affect the upper limbs in the preaxial radial ray distribution and are bilateral and asymmetrical. They range from clinodactyly, absent or digitalised thumb, hypoplastic...