منابع مشابه
Cornelia de Lange syndrome.
Cornelia de Lange syndrome (CdLS) is a rarely seen multisystem developmental disorder syndrome characterized by facial dysmorphia (arched eyebrows, synophrys, depressed nasal bridge, long philtrum, down-turned angles of the mouth), upper-extremity malformations, hirsutism, cardiac defects, growth and cognitive retardation, and gastrointestinal abnormalities. We present here a case of newborn ma...
متن کاملThe De Lange Syndrome.
This is a book which clinical geneticists and those interested in malformations will enjoy looking at and reading. It is probably best bought together with the companion volumes rather than in isolation. It supplements but does not replace other illustrated catalogues which have been recently published on the malformation syndromes. Alzheimer's disease is a moderately infrequent form of preseni...
متن کاملOn a Conjecture of Lange
We want to study this stratification. A vector bundle E ∈ Ur′,s(r, d) can be written in an exact sequence 0 → E ′ → E → E ′′ → 0 with E , E ′′ vector bundles of ranks r, r and degrees d, d satisfying r = r+r, d = d + d, rd − rd = rd − rd = s. Note that the condition s > 0 is equivalent to the inequality of slopes μ(E ) < μ(E ). One expects that when this condition is satisfied, a generic such e...
متن کاملClassical cornelia de lange syndrome.
SummaryThese two case reports illustrate the importance of doing a thorough dysmorphology examination for all so called "Multiple congenital anomalies" children and attempting to fit them into a recognized syndrome. Well over 2000 dysmorphic syndromes are now recognized and diagnosis of these children can be extremely difficult.
متن کاملCornelia De Lange Syndrome and Cochlear Implantation
Introduction: Literature regarding the different degrees of hearing loss in patients with Cornelia de Lange syndrome (CDLS) reports that half of the affected patients exhibit severe to profound sensorineural hearing loss. We present the first pre-school child with CDLS who underwent cochlear implantation for congenital profound sensorineural hearing loss. Case Report: A 3-year-old boy with CD...
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ژورنال
عنوان ژورنال: Nature
سال: 1954
ISSN: 0028-0836,1476-4687
DOI: 10.1038/173089a0