نتایج جستجو برای: facial dysmorphism
تعداد نتایج: 60752 فیلتر نتایج به سال:
suewith fibroadiposeelements,muscle, andbloodvessels.Our patient had each of these elements. Conservative treatment includes observation with aspiration as needed. In recalcitrant cases not amenable to aspiration or if considerable facial dysmorphism exists, excision is conventionally undertaken. In summary, congenital cystic eye is exceedingly rare. Diagnosishistoricallywasbasedonphysical andh...
We report on a male infant who presented with intrauterine growth retardation, severe postnatal failure to thrive, microcephaly, facial dysmorphism, and skeletal dysplasia. The clinical and radiological findings are consistent with former descriptions of microcephalic osteodysplastic primordial dwarfism (MOPD) type I/III. In addition to previously published features, multiple fractures of the l...
Williams-Beuren syndrome is a well-known microdeletion syndrome with a recognizable clinical phenotype. The subtle phenotype of the reciprocal microduplication of the Williams-Beuren critical region has been described recently. We report seven further patients, and a transmitting parent, with 7q11.23 microduplication. All our patients had speech delay, autistic features and facial dysmorphism c...
We describe clinical presentation in a male newborn baby who presented with thumb aplasia, forearm hypoplasia and secundum atrial septal defect (ASD II). The child has no other bone anomalies or facial dysmorphism. The ultrasound morphology of the brain is normal. He has patent ductus arteriosus, without abnormalities in the ECG record. Complete blood count (CBC) is normal. In the spectrum of h...
We report a new lethal multiple congenital abnormality (MCA) syndrome of exomphalos, short limbs, nuchal web, macrogonadism, and facial dysmorphism in seven fetuses (six males and one female) belonging to three unrelated families. X rays showed enlarged and irregular metaphyses with a heterogeneous pattern of mineralisation of the long bones. Pathological examination showed adrenal cytomegaly, ...
A new case of trisomy 19q13.2-->qter is described in a male child which was caused by a maternal balanced translocation (13;19)(p13;q13.2). The major clinical features detected in the patient included the following: facial dysmorphism, bilateral coloboma, narrow and hypoplastic nails, cardiac malformations (Fallot's tetralogy), genitourinary and gastrointestinal anomalies, and agenesis of the c...
Abstract Background RHOBTB2 gene is associated with developmental and epileptic encephalopathy-64(DEE-64), which characterized by epilepsy, delay, microcephaly, unspecific facial dysmorphism, paroxysmal movement disorders. Most previous studies showed that the phenotypes of include encephalopathy(DEE) DEE Only one study patient variant had disorders no epilepsy. Case presentations Two cases var...
Taybi-Linder syndrome (TALS, OMIM 210710) is a rare autosomal recessive disorder belonging to the group of microcephalic osteodysplastic primordial dwarfisms (MOPD). This syndrome is characterized by short stature, skeletal anomalies, severe microcephaly with brain malformations and facial dysmorphism, and is caused by mutations in RNU4ATAC. RNU4ATAC is transcribed into a non-coding small nucle...
RAS proteins play key roles in normal cell growth, malignant transformation and learning and memory. Somatic mutations in RAS genes and several of their upstream and downstream molecules result in different human malignancies. In recent years germline mutations in genes coding for components of the RAS signalling cascade have been recognised in a group of phenotypically overlapping disorders, r...
We report a 20 month old female patient with diploid-triploid mixoploidy (46,XX/69,XXX) syndrome with hypothyroidism and precocious puberty. The triploid cell line was only expressed in the fibroblast culture and comprised the majority (95%) of the cells. Chromosome analysis of the fetal blood sample and peripheral blood sample were normal. The patient shows typical features of full triploidy (...
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