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Autosomal dominant multiple pterygium syndrome; Other names: Distal arthrogryposis type 8 [1] Autosomal dominant multiple pterygium syndrome is inherited in an autosomal dominant fashion. Specialty: Dermatology
Bartsocas-Papas syndrome is a form of popliteal pterygium syndrome and is a very rare disease characterized by congenital craniofacial anomalies, popliteal webbing, and genitourinary and musculoskeletal anomalies. It was first described by Dr. Christos Bartsocas and is more specifically an autosomal recessive popliteal pterygium syndrome. [8]
Multiple contracture syndrome Finnish type; Multiple endocrine neoplasia type 1; Multiple endocrine neoplasia, type 2; Multiple fibrofolliculoma familial; Multiple hereditary exostoses; Multiple joint dislocations metaphyseal dysplasia; Multiple myeloma; Multiple organ failure; Multiple pterygium syndrome lethal type; Multiple pterygium syndrome
Autosomal dominant ichthyosis; Autosomal dominant multiple pterygium syndrome; Autosomal recessive chondrodysplasia punctata type 1; B. Bart syndrome; Bazex syndrome;
Autosomal dominant cerebellar ataxia; Autosomal dominant Charcot–Marie–Tooth disease type 2 with giant axons; Autosomal dominant GTP cyclohydrolase I deficiency; Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome; Autosomal dominant nocturnal frontal lobe epilepsy; Autosomal dominant partial epilepsy ...
Autosomal dominant or autosomal recessive Mean age at diagnosis was found to be around 24 to 26, but it varies widely. [15] May involve salt wasting. [16] Individuals with the autosomal dominant mutations typically show higher potassium levels than those with autosomal recessive mutations. Hypertension usually develops in adulthood.
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Dental abnormalities in a 5-year-old girl from north Sweden family who had various symptoms of autosomal dominant hypohidrotic ectodermal dysplasia (HED): a) Intraoral view. Note that the upper incisors have been restored with composite material to disguise their original conical shape.