A new lethal neonatal short limb dwarfism.
We report on a baby with an apparently new type of lethal short limb dwarfism. The inheritance appears to be autosomal recessive.
Adult↗
Biomedical subjects
L I al Gazali
Publications and source records attributed to L I al Gazali.
Microcephalic osteodysplastic primordial dwarfism type II.
We report a child with osteodysplastic primordial dwarfism type II. The literature is reviewed.
Bone and Bones↗
Autosomal recessive omodysplasia.
Explore the source record for details and available documents.
Adult↗
A syndrome of osteogenesis imperfecta, optic atrophy, retinopathy and severe developmental delay in two sibs of consanguineous parents.
We report on two sibs of consanguineous parents with osteogenesis imperfecta, wormian bones, optic atrophy, retinopathy, fits and severe psychomotor retardation.
Atrophy↗
Anterior segment anomalies of the eye, clefting and skeletal abnormalities in two sibs of consanguineous parents: Michels syndrome or new syndrome?
We report two sibs of consanguineous parents with multiple congenital abnormalities which include prenatal and postnatal growth retardation, anterior segment defects of the eye, arachnodactyly with other skeletal abnormalities, congenital heart disease and early lethality. We think this constellation of anomalies may represent a previously undescribed syndrome. There are some similarities to Michels syndrome from which it should be differentiated.
Abnormalities, Multiple↗
Microphthalmia and distal limb abnormalities in a child of consanguineous parents.
We report a child of consanguineous parents with microphthalmia and distal limb abnormalities. The association between eye and distal limb abnormalities have been reported previously. However, the eye involvement in the child in this report is less severe than the previously reported cases.
Adult↗
Otospondylomegaepiphyseal dysplasia: report of three sibs and review of the literature.
We report three sibs with clinical and radiological features of otospondylomegaepiphyseal (OSMED) syndrome. The literature is reviewed.
Abnormalities, Multiple↗
Two sibs with unbalanced translocations in the Waardenburg gene region.
We report two sibs with unbalanced translocations between chromosomes 2 and 11, both products of a paternal balanced reciprocal translocation involving bands 2q37.3 and 11q23.3
Child↗
The Schwartz-Jampel syndrome.
Three sibs with severe manifestation of Schwartz-Jampel syndrome are described. All died due to respiratory complications. Early diagnosis might help to prevent this complication. In addition to electromyography, skeletal radiographs can be helpful in establishing the diagnosis. The radiological manifestations of this syndrome are reviewed.
Bone and Bones↗