Multiple Pterygium Syndrome Record. syndrome. multiple pterygium syndrome pterygium universale. Summary. A rare syndrome of short stature, abnormal facies and webbing of the neck, antecubital, digital, popliteal http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome471.html
Extractions: Syndrome multiple pterygium syndrome Synonyms Escobar syndrome familial pterygium syndrome pterygium colli syndrome pterygium syndrome pterygium universale Summary A rare syndrome of short stature, abnormal facies and webbing of the neck, antecubital, digital, popliteal, and intercural areas. Joint contractures, vertebral fusion defects, and rocker-bottom feet are usually associated. Major Features Head and neck: Epicanthal folds and small mandible with pointed receding chin, long philtrum, and syngnathia. Ears: Low-set ears. Eyes: Downslanting palpebral fissures, blepharoptosis, and puffiness about the eyes in some cases. Mouth and oral structures: Downturned angles of the mouth, lip pits, occasional cleft palate, and spoonlike shape of the tongue (lingua cochlearis). Neck: Pterygia. Hand and foot: Soft tissue syndactyly of the fingers, flexion deformity of the fingers and thumbs, talipes calcaneovalgus, and rocker-bottom feet, Extremities: Popliteal pterygia
Birth Disorder Information Directory - P Pontocerebellar Hypoplasia Type II Support Group. popliteal pterygiumsyndrome See pterygium, syndrome, popliteal. Porencephaly List http://www.bdid.com/defectp.htm
Extractions: HOME P-4 Deletion Syndrome p47-PHOX, Deficiency of p67-PHOX, Deficiency of Pachydermopreiostosis (Hypertrophic Osteoarthropathy, Primary or Idiopathic) Pachyonychia Congenita Pagod Syndrome Pagon Bird Detter Syndrome (Anemia Sideroblastic Spinocerebellar Ataxia) Pagon Syndrome Pallister Syndrome Pallister Hall Syndrome (Hypothalamic Hamartoblastoma, Hypopituitarism, Imperperforate Anus, and Postaxial Polydactyly) Pallister Killian Syndrome V-KI-RAS2 KIRSTEN RAT SARCOMA 2 VIRAL ONCOGENE HOMOLOG; KRAS2
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ORPHANET® Multiple Pterygium Syndrome, Lethal Type The LMPS is to be distinguished from the lethal popliteal pterygium (Bartsocas Papas)syndrome, where pterygium are limited to the popliteal region and lethal http://www.orpha.net/static/GB/multiplepterygiumsyndrome.html
Extractions: Introduction Multiple pterygium Syndrome (MPS) is a rare autosomal recessive disorder characterized by multiple flexion contractures with skin webs across the joints, hydrops fetalis, polyhydramnios and hypoplastic lungs. [1] Two types have been described: the classical form appearing in children and adolescents, and the lethal form involving abortuses and stillbirths [1]. Antenatal ultrasound examination can establish the correct diagnosis by identifying the major features. We report a second trimester pregnancy termination in a woman following intra uterine findings of hydrops fetalis, polyhydramnios, lack of fetal movements and short, fixed malformed limbs. Early prenatal diagnosis of this condition is possible using ultrasound as early as in the early second trimester. Multiple etiologies have been described which would be discussed. [2] Figure 1: Longitudinal section of the fetal neck-subcutaneous edema and short neck.
Extractions: Hereditary Neuropathies Charcot-Marie-Tooth Disease IC (CMT-IC) Dr. Chance Charcot-Marie-Tooth Disease (CMT-X) Dr. Chance Hereditary Neuralgic Amyotrophy (HNA) Dr. Chance Hereditary Neuropathy with Liability to Pressure Palsies Dr. Chance Juvenile Amyotrophic Lateral Sclerosis (JALS) Dr. Chance Joubert Disease Dr. Chance Immunodeficiencies Adenosine Deaminase (ADA) Deficiency Dr. Ochs Bare Lymphocyte Syndrome (RFX5) Dr. Cotner Bare Lymphocyte Syndrome (RFX-B) Dr. Cotner Bare Lymphocyte Syndrome (RFX-AP) Dr. Cotner Bare Lymphocyte Syndrome (CIITA) Dr. Cotner Common Variable Immunodeficiency Dr. Ochs X-linked Hyper IgM Dr. Ochs Immunodeficiency Polyendocrinopathy Enteropathy X-linked Dr. Chance
99-1-5 is named as pterygium syndrome, multiple pterygium syndrome or pterygium colli syndromeis characterized with webbing in the neck, popliteal and antecubital http://www.cu.edu.tr/fakulteler/tf/tfd/99-1-5.htm
Extractions: ÇUKUROVA ÜNÝVERSÝTESÝ TIP FAKÜLTESÝ DERGÝSÝ Sayfa: 24-26, Cilt: 24 , Sayý: Multipl pterigium sendromu: bir olgu sunumu Dr.Münevver TÜRKMEN , Dr.Dilara SÜLEYMANOVA Adnan Menderes Üniversitesi Týp Fakültesi Çocuk Saðlýðý ve Hastalýklarý ABD. AYDIN, Ç.Ü. Týp Fakültesi Týbbý Biyoloji ve Genetik ABD. Balcalý/ADANA ÖZET: Pterigium sendromu, multipl pterigium sendromu, pterygium colli sendromu olarak adlandýrýlan bu antite; boyunda, antekubital ve popliteal fossada yelelenme (webbing), göðüs deformiteleri, skolyoz (vertebra anomalileri), sindaktili, kamptodaktili, boy kýsalýðý, min r yüz anomalileri ve yarýk damak ile karakterizedir. Genetik geçiþi konusunda çeþitli görüþler varsa da otosomal resesif kalýtým þekli kabul görmüþtür. Burada akraba evliliði sonucu doðan, dismorfik yüz görünümü, boyunda yelelenme, dirsekler de, omuz, diz ekleminin arkasýnda, kalça ekleminin ön yüzünde deri kývrýmlarý (pterigium) ve göðüs kafesinde deformiteleri, kriptorþidizmi olan multipl pterigium sendromu tanýsý konan bir olgu genetik danýþma verilmesi nedeniyle sunulmuþtur. Anahtar kelimeler: Multipl pterigium sendromu, Otosomal resesif kalýtým
Extractions: ABSTRACT The popliteal pterygium syndrome is very rare, and is characterized by a congenital popliteal web accompanying the genitourinary, craniofacial, and musculoskeletal anomalies. We described a case of presumably popliteal pterygium syndrome with severe right popliteal web, right renal agenesis, left bifurcated ninth rib, urethral orifice in the vagina, right presacral discoloration resembling A-V malformation, imperforate anus, skin dimple in the left gluteal region, right calcaneovalgus foot with supernumerary digits and aberrant profunda femoris artery. This is the first report of this combination in the pertinent literature.
Syngnathia And Van Der Woude Syndrome A Case Report And Fewer than 50 cases have been described, most commonly in association with poplitealpterygium syndrome (facial deformities, cleft lip/palate, lip pits http://cpcj.allenpress.com/cpcjonline/?request=get-document&doi=10.1597/1545-156
Extractions: Web Pages - ranked by popularity NORD: Popliteal Pterygium Syndrome http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Popliteal%20Pterygium%20Syndrome%20 Offers synonyms, a general discussion and further resources. National Library of Medicine: Multiple Pterygium Syndrome http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome471.html Includes the synonyms, a summary and the major features.
Extractions: Sponsored Links What are you looking for? the entire directory only in Genetic_Disorders/Popliteal_Pterygium_Syndrome Popular Categories Popular Searches Recent Categories Recent Searches ... Genetic Disorders : Popliteal Pterygium Syndrome Top Web Sites: National Library of Medicine: Multiple Pterygium Syndrome - Includes the synonyms, a summary and the major features.
