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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]
A webbed neck, or pterygium colli, is a congenital skin fold that runs along the sides of the neck down to the shoulders. There are many variants. There are many variants. Signs and symptoms
Difference between pterygium and pseudopterygium Pterygium Pseudopterygium Etiology Degenerative process: Inflammatory process Age Common in adults [5] Occur in any age Site Horizontally, most commonly nasally [4] Anywhere Status Progressive(commonly) or stationary [5] Always stationary Neck Adherent to limbus [5] Free Probe test
The cause of pterygium inversum unguis is unknown. Congenital pterygium inversum unguis is assumed to be brought on by an early abnormality in the fetal ridge and groove formation. [5] Idiopathic forms of pterygium inversum unguis may result from the nail bed's distal expansion, which often aids in the creation of the nail plate. [6]
Popliteal pterygium syndrome, a congenital condition affecting the face, limbs, or genitalia but named after the wing-like structural anomaly behind the knee. Pterygium (eye) or surfer's eye, a growth on the cornea of the eye. Pterygium colli or webbed neck, a congenital skin fold of the neck down to the shoulders.
The CDKN2A gene is located on chromosome 9p21.3. Two main transcripts, isoforms '1' and '4', each contain three exons and span 7288 and 26740 bp, respectively. They encode proteins of 156 and 173 amino acids; isoform '1' encodes p16(INK4a), while isoform '4' encodes p14(ARF), a protein that is structurally unrelated to p16(INK4) but acts in cell cycle G1 control by stabilizing the tumor ...
The symptoms would appear at birth or shortly after birth. The combination of physical symptoms on the child would suggest they have CHILD syndrome. A skin sample examined under a microscope would suggest the characteristics of the syndrome and an X-ray of the trunk, arms, and legs would help to detect underdeveloped bones. A CT scan would help ...