منابع مشابه
17. Papillon-Lefevre syndrome
Papillon-Lefevre syndrome is a rare autosomal recessive disorder and is characterized by the diffuse palmoplantar hyperkeratosis with rapid destruction of the periodontal support of both the primary and secondary dentition. Patient is often completely or partially edentulous at the stage of primary (4-5 yrs) and permanent dentition (13-15 yrs). Though, exact etiopathogenesis is unknown; three m...
متن کاملCase 17. 22q11.2 Deletion Syndrome
● Primary care physicians may encounter situations in which a genetic diagnosis is now possible in an individual with developmental delay whose previous genetic workup was negative. ● Testing for small chromosomal deletions, such as 22q11.2 deletion syndrome, represents an example of the improved diagnostic capabilities of current genetic testing. ● 22q11.2 deletion syndrome includes a range of...
متن کاملMiller-Dieker syndrome with ring chromosome 17.
A girl presented at 6 weeks of age with failure to thrive and arching of the back. She had various dysmorphic features, hepatosplenomegaly, and developmental delay. The electroencephalogram and cranial ultrasound were abnormal, and a computed tomogram showed lissencephaly and apparent agenesis of the corpus callosum. Because of frequent aspiration she became oxygen dependent. She later develope...
متن کاملClinical analysis of kasabach-merritt syndrome in 17 neonates
BACKGROUND Kasabach-Merritt syndrome (KMS) is characterized by giant hemangiomas and severe thrombocytopenia, which may result in life-threatening multi-organ hemorrhage. This study evaluated the clinical characteristics, treatments, and outcomes in neonates with KMS, in order to find out the optimal therapy. METHODS The clinical data of 17 patients treated for KMS in the Department of Neonat...
متن کاملPhenotype and genotype in 17 patients with Goltz-Gorlin syndrome.
BACKGROUND Goltz-Gorlin syndrome or focal dermal hypoplasia is a highly variable, X-linked dominant syndrome with abnormalities of ectodermal and mesodermal origin. In 2007, mutations in the PORCN gene were found to be causative in Goltz-Gorlin syndrome. METHOD A series of 17 patients with Goltz-Gorlin syndrome is reported on, and their phenotype and genotype are described. RESULTS In 14 pa...
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ژورنال
عنوان ژورنال: Journal of Neurology, Neurosurgery & Psychiatry
سال: 2014
ISSN: 0022-3050,1468-330X
DOI: 10.1136/jnnp-2014-309236.36