نتایج جستجو برای: dysmorphism
تعداد نتایج: 823 فیلتر نتایج به سال:
Background The Kabuki syndrome (KS) is a rare genetic, hereditary, autosomic dominant, multiple anomaly syndrome, with an estimated incidence around 1-2/ 100 000 worldwide. Not all of the affected individuals have the same malformations. Five major criteria delineate KS: postnatal short stature, skeletal anomalies, moderate mental retardation, dermatoglyphic anomalies, characteristic facial dys...
Schwartz-Jampel syndrome is a rare, inherited disorder characterized by myotonia, skeletal deformities, facial dysmorphism, and growth retardation. In this report of an adolescent male patient with Schwartz-Jampel syndrome, CT and MR imaging revealed basilar invagination, platybasia, Chiari I malformation, hyperpneumatized mastoids with intramastoid dural sinuses, platyspondyly, bulbous zygoma,...
We report a patient with median cleft of the upper lip, cutaneous facial polyps, and lipoma of the corpus callosum who represents a further case of Pai syndrome. The father of the patient showed coloboma of the right iris and shared some facial dysmorphism with his son, thus raising the question of autosomal dominant inheritance.
Pyle type metaphyseal dysplasia is a rare autosomal recessive disease that primarily affects metaphyses. We report a 12 year old boy with Pyles disease. He had mild facial dysmorphism, genu valgum and wasting of legs. Skeletal radiology revealed the characteristic Erlenmeyer flask sign at distal femoral and proximal tibial metaphyses along with platyspondyly.
AIM To describe a novel technique to treat hypotony and shallow anterior chamber following trabeculectomy METHODS Three patients who underwent fornix based trabeculectomy with mitomycin C (MMC) presented in the postoperative days with a shallow anterior chamber, hypotony, and overfiltrating blebs. They were treated with an injection of 0.2 ml of 16% perfluoropropane (C(3)F(8)) to the anterior...
BACKGROUND Immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome) is a rare autosomal recessive disease characterised by facial dysmorphism, immunoglobulin deficiency and branching of chromosomes 1, 9 and 16 after PHA stimulation of lymphocytes. Hypomethylation of DNA of a small fraction of the genome is an unusual feature of ICF patients which is explained by mutations...
Barber-Say syndrome is a rare disorder characterized by hypertrichosis, redundant skin, and facial dysmorphism. TWIST2 gene mutation previously described in this syndrome was identified in our patient. Genetic testing is recommended in patients presenting with these phenotypic abnormalities, along with their parents, to establish de novo or inherited mutations.
Müllerian duct abnormalities (MDA) are developmental disorders leading to dysmorphism of the female genital tract. Currently the Buttram and Gibbons classification of these entities is widely used. We present a case of a young girl with uterus didelphys and ipsilateral renal agenesis.
We present a child with severe mental retardation, a central nervous system malformation, signs of ectodermal dysplasia, and a distinct craniofacial dysmorphism. Similar but less pronounced craniofacial features were present in the mildly mentally retarded mother. This observation confirms a previous report of a boy with the same MCA-MR syndrome and suggests X linked or autosomal dominant inher...
Primary clinical features Retinitis pigmentosa (rod-cone dystrophy) Obesity Polydactyly Hypogonadism Intellectual disability/cognitive impairment Renal abnormalities Secondary clinical features Diabetes mellitus type II Cardiovascular problems Hearing loss Speech deficiency Behavioral problems Craniofacial dysmorphism Short stature Hepatic involvement Eye abnormalities Ataxia Dental and palatal...
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