Marfanoid habitus associated with hydrocephalus
نویسندگان
چکیده
منابع مشابه
X-linked mental retardation with marfanoid habitus.
Here we report on two pairs of mildly to moderately mentally retarded brothers with marfanoid habitus and similar craniofacial changes. They had a long and narrow face, small mandible, high-arched palate, and hypernasal voice, as previously reported by Lujan et al (Am J Med Genet 17:311-322, 1984) in four mentally retarded males of a large kindred. The present data suggest the existence of a sp...
متن کاملMitral valve prolapse and a Marfanoid habitus.
likely to fall. More seriously, medical schools are already short of bright working-class entrants (2-5% have parents in social classes IV or V, which constitute about 30/% ofthe population'), and this financial squeeze can only act as a further disincentive. Good arguments can be produced for rethinking the whole system of student grants,2 but until that comes about the Government should think...
متن کاملHepatopulmonary Syndrome, Severe Cyanosis and Marfanoid Habitus.
We report the case of a 17-year-old male with Marfanoid habitus who presented with deep cyanosis, haematemesis, dyspnoea and platypnoea. He had oesophageal varices, indicating portal hypertension, with mildly deranged liver function. His arterial blood gas (ABG) revealed hypoxia and orthodeoxia. Contrast-enhanced echocardiography with agitated saline and a 99m Technetium macro-aggregated albumi...
متن کاملCardiomyopathy in patients with Marfan syndrome and marfanoid habitus
This open-access article is distributed under the terms of the Creative Commons Attribution Non-Commercial License (CC BY-NC) (http:// creativecommons.org/licenses/by-nc/4.0/), which permits reuse, distribution and reproduction of the article, provided that the original work is properly cited and the reuse is restricted to noncommercial purposes. For commercial reuse, contact [email protected]...
متن کاملTwo novel FBN1 mutations associated with ectopia lentis and marfanoid habitus in two Chinese families
PURPOSE To identify the molecular defects in the fibrillin-1 gene (FBN1) in two Chinese families with ectopia lentis (EL) and marfanoid habitus. METHODS Five patients and eight non-carriers in the two families underwent complete physical, ophthalmic, and cardiovascular examinations. Genomic DNA was extracted from leukocytes of venous blood of these individuals in the families as well as 100 h...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: JBNC - JORNAL BRASILEIRO DE NEUROCIRURGIA
سال: 2018
ISSN: 2446-6786
DOI: 10.22290/jbnc.v21i3.927