نتایج جستجو برای: macrocephaly
تعداد نتایج: 695 فیلتر نتایج به سال:
A 6 month old Turkish boy with the acrocallosal syndrome is reported. The patient, born to consanguineous, healthy parents, presented with macrocephaly, a prominent forehead, hypertelorism, polydactyly of the fingers and toes, severe motor and mental retardation, hypotonia, and absence of the corpus callosum. The mode of inheritance is discussed and our case is compared with previously reported...
CONCLUSION: We could achieve complete bone healing and premorbid occlusion using microplates. The microplates are strong enough to keep comminuted mandibular fractures reduced. Their small size and malleability allow multiple fixation of comminuted bony segments in accurate-anatomical position, less periosteal stripping and self-occlusal adjustment. Therefore, microplate fixation may be one of ...
Hospital de Clínicas de Porto Alegre, Universidade Federal do Rio Grande do Sul, Porto Alegre RS, Brazil: MD, Child Neurologist; MD, Geneticist; Ph.D. Child Neurologist, Pediatric Neurology Residency Program Preceptor; Ph.D. Child Neurologist, Adjunct Professor of Pediatrics, Head of Pediatric Neurology Unit. The Neuhauser syndrome was first described in 1975. Three siblings in the same family ...
Bannayan-Riley-Ruvalcaba syndrome is a rare condition caused by mutation in the PTEN gene. It can cause pigmentation defects, hamartoma and behavioural abnormalities. We report the case of a 10-yearold boy with short stature, pigmented maculae on the glans penis, obsessive-compulsive disorder and macrocephaly. The case is presented due to the rarity of the condition and its predisposition to tu...
To the Editor : OFD1 mutations are responsible for X-linked dominant oral-facial-digital syndrome type I (OFDSI), as well as for four recessive X-linked phenotypes: mental retardation (MR) with macrocephaly, obesity, distal limb abnormalities and ciliary dysfunction [Simpson–Golabi–Behmel syndrome type 2 (SGBS2)], JS (Joubert syndrome) with polydactyly and retinal involvement (JBST10), an uncla...
Greig cephalopolysyndactyly syndrome is a rare genetic disorder, with an autosomal dominant inheritance and consisting of a triad of polysyndactyly, macrocephaly and hypertelorism. Crossed polydactyly is a finding characteristically associated with this syndrome. We report a one and half year old male child who presented with classic clinical features and family history diagnostic of the above ...
This is a case report of macrosomia, obesity, macrocephaly and ocular abnormalities (MOMO syndrome) associated with autism. Studies on genetic or environmental syndromes associated with autism can provide genetic markers or uncover relevant events, and are very important for the definition of autism subgroups in future molecular research.
Cantu syndrome is a rare congenital disorder characterized by hypertrichosis, osteochondrodysplasia, cardiomegaly, macrocephaly, short body stature, prominent or enlarged forehead, wide set and bulging eyes, loose skin with wrinkled palms and soles of the feet, hyperextensible joints, wide ribs and small vertebrae. We describe a newborn with features of Cantu syndrome.
We report a compound heterozygous mutation (c.135delC; c.423+2dupT) of MLC1 gene in a Chinese patient underlying infantile macrocephaly and neurological deterioration in early childhood. Brain MRI revealed diffusion abnormality in swollen white matter and a subcortical cyst. The cDNA sequencing analysis for the c.423+2dupT variant revealed skipping of exon 5.
Microcephaly and macrocephaly are overrepresented in individuals with autism and are thought to be disease-related risk factors or endophenotypes. Analysis of DNA microarray results from a family with a low functioning autistic child determined that the proband and two additional unaffected family members who carry a rare inherited 760 kb duplication of unknown clinical significance at 19p13.12...
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