New Syndrome: Partially Ectodermal Growth Deficiency (Fidan Syndrome)
نویسندگان
چکیده
منابع مشابه
Cardiofaciocutaneous syndrome with new ectodermal manifestations.
We describe a 7 year old girl whose features satisfy the diagnosis of cardiofaciocutaneous syndrome. Her ectodermal features consist of fine, sparse hair, thin, opalescent nails, finger tip pads, generalised pigmentation of the skin, but no hyperkeratosis. Skin pigmentation and finger tip pads have not been previously reported in this syndrome. Twenty-two cases of CFC have been described but th...
متن کاملEctodermal dysplasia (ED) syndrome
Ectodermal dysplasia (ED) syndrome comprises a large, heterogeneous group of inherited disorders that are defined by primary defects in the development of 2 or more tissues derived from the embryonic ectoderm. The tissues primarily involved are the skin and its appendages (including hair follicles, eccrine glands, sebaceous glands, nails) and teeth. The clinical features include sparse hair, ab...
متن کاملAutoimmune Polyglandular Syndrome Type 3c with Ectodermal Dysplasia, Immune Deficiency and Hemolytic-Uremic Syndrome
Autoimmune polyglandular syndrome (APS) is a disorder which is associated with multiple endocrine gland insufficiency and also with non-endocrine manifestations. The pathophysiology of APS is poorly understood, but the hallmark evidence of APS is development of autoantibodies against multiple endocrine and non-endocrine organs. These autoantibodies are responsible for the dysfunction of the aff...
متن کاملRapp-Hodgkin ectodermal dysplasia syndrome
Gross R E, Neuhauser E B D. Compression of the trachea by an anomalous innominate artery: an operation for its relief. Am J Dis Child 1948; 75: 570-4. 2 Fearon B, Shortreed R. Tracheobronchial compression by congenital cardiovascular anomalies in children. Syndrome of apnea. Ann Otol Rhinol Laryngol 1963; 72: 949-69. 3 Mustard W T, Bayliss C E, Fearon B, Pelton D, Trusler G A. Tracheal compress...
متن کاملPoland's syndrome associated with growth hormone deficiency.
A 9 year old boy with Poland's syndrome (absence of the left pectoralis major muscle associated with an ipsilateral malformation of the hand) and isolated growth hormone deficiency, owing to anatomical abnormalities of the pituitary gland, is described. MRI brain scan showed severe hypoplasia of both the sella and anterior lobe of the pituitary gland with absence of the pituitary stalk and ecto...
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ژورنال
عنوان ژورنال: Clinical Case Reports and Reviews
سال: 2019
ISSN: 2059-0393
DOI: 10.15761/ccrr.1000447