S plit hand/foot malformation type I (SHFM1, OMIM *183600) is an autosomal dominant developmental disorder of limb formation that results in the absence of the central digital rays, deep median clefts, and syndactyly of the remaining digits. Patients with SHFM1 harbour deletions, translocations, and inversions in chromosomal region 7q21–q22. The deletions at 7q21–q22 encompass different genomic...

S plit hand/foot malformation type I (SHFM1, OMIM *183600) is an autosomal dominant developmental disorder of limb formation that results in the absence of the central digital rays, deep median clefts, and syndactyly of the remaining digits. Patients with SHFM1 harbour deletions, translocations, and inversions in chromosomal region 7q21–q22. The deletions at 7q21–q22 encompass different genomic...

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BACKGROUND Histopathological examinations and computed tomographic scans of the temporal bone in patients with the CHARGE association (a malformative syndrome that includes coloboma, heart disease, choanal atresia, retarded development, genital hypoplasia, and ear anomalies, including hypoplasia of the external ear and hearing loss) have shown an absence of semicircular canals and a Mondini for...

conclusions getting a complete knowledge of the condition and evaluating different treatment modalities to treat thoracic insufficiency syndrome. results a direct enlargement of the thorax that will thus provide sufficient space for lung growth; the correction of both the three-dimensional thoracic deformity and the progressive scoliosis. recent findings have revealed that veptr instrumentation...

The rare form of skeletal dysplasia is thanatophoric dysplasia. The meaning for thanatophoric dysplasia is death bearing which is derived from Greek word. It occurs 1in 20,000 to 50,000. It is mainly due to mutations in the fibroblast growth factor receptor 3gene. Features of thanatophoric dysplasia are frontal bossing, prominent eyes, narrow thorax, protruded abdomen and bowed legs. The knowle...