نتایج جستجو برای: cartilage hair hypoplasia
تعداد نتایج: 77284 فیلتر نتایج به سال:
BACKGROUND Nasomaxillary hypoplasia is a rare congenital disorder involving the central face. It imparts a distinctive appearance to the individual face as the age advances. Severity of the disorder varies, so do the manifestations. METHODS This was a retrospective study conducted on the records and photographic data of 560 rhinoplasty cases performed between 2006 March and 2016 March. About ...
Malar Reconstruction Using Y-V Advancement Flaps after Tissue Expansion in Treacher Collins Syndrome
The Treacher Collins syndrome is characterized by both soft and hard tissue deficiencies. To reconstruct malar hypoplasia with both soft and hard tissues, we designed a new method using cartilage grafts, Y-V advancement flaps, and Z plasty with tissue expansion.
Seven young men developed similar manifestations of disseminated candidiasis after a single episode of intravenous heroin abuse. Sequential development of lesions of the eye, skin, and bone or costal cartilage was noted within 10 days after injection. Skin lesions were confined to the scalp and other hair bearing areas. Candida albicans was cultured readily from affected skin and costal cartila...
MANDIBULO-FACIAL dysostosis is the name given by Franceschetti and Zwahlen (1944) and Franceschetti and Klein (1949) to a complex of symptoms which together comprise a congenital oro-facial syndrome (Wildervanck, 1960). Franceschetti and Klein (1949) reviewed the literature and described the typical characteristics of the syndrome as follows: (1) Antimongoloid palpebral fissures with either a n...
Purpose We report the clinical characteristics of a Japanese family with autosomal dominant oculocutaneous albinism and a SLC45A2 gene mutation. Methods A total of 16 members of a Japanese family with general hypopigmentation and foveal hypoplasia underwent detailed clinical examinations. We evaluated the severity of foveal hypoplasia using spectral-domain optical coherence tomography (SD-OCT...
ATR-X syndrome is an X-linked mental retardation syndrome characterized by mental retardation, alpha thalassaemia and distinct facial features which include microcephaly, frontal hair upsweep, epicanthic folds, small triangular nose, midface hypoplasia and carp-shaped mouth. Here we report two twins with this syndrome.
We report an inbred Tunisian family, in which the proband manifested signs of hypohidrotic ectodermal dysplasia, subtotal amelia, scoliosis and left renal agenesis. Two other family members had the full clinical criteria of hypohidrotic ectodermal dysplasia, characterized by deficient sweat glands, hypodontia, hypoplasia of the mucous glands, and fine hair. Nine family subjects had variable cli...
Massive lobar emphysema in the middle lobe of the right lung was observed in a dog brought to our clinic with sudden onset of tension pneumothorax, and lobectomy was performed to excise it. Pathological examination resulted in a diagnosis of congenital bronchiectasis associated with bronchial cartilage hypoplasia. Two cases of diagnosis and successful treatment of congenital lobar emphysema hav...
A male infant was found to have bilateral exudative retinopathy at 6 months of age. A month later severe aplastic anaemia was diagnosed, eventually leading to the infant's death. Additional features of this seemingly new syndrome were intrauterine growth retardation, fine sparse hair, fine reticulate skin pigmentation, ataxia because of cerebellar hypoplasia, cerebral calcifications, extensor h...
1Pediatric Hematology, Oncology and Stem Cell Transplantation, Kliniek voor Kinderziekten C. Hooft, Ghent University Hospital, Ghent, Belgium; 2Newcastle University, Newcastle upon Tyne, United Kingdom; 3Departments of Bone Marrow Transplantation and Clinical Immunology, Great Ormond Street Hospital, London, United Kingdom; 4Universitätskinderklinik und Poliklinik, Ulm, Germany; 5Utrecht Univer...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید