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Autosomal dominant multiple pterygium syndrome is a cutaneous condition inherited in an autosomal dominant fashion. [2] Society
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
Kabuki syndrome (previously known as Kabuki-makeup syndrome (KMS) or Niikawa–Kuroki syndrome) is a rare congenital disorder of genetic origin. [1] [2] It affects multiple parts of the body, with varying symptoms and severity, although the most common is the characteristic facial appearance. [3] Kabuki syndrome (KS) affects roughly one in ...
Assess the patient to determine if other signs or symptoms of respiratory – retractions, wheezing, nasal flaring, grunting, etc. -- or cardiac – cyanosis, irritability, edema, etc. -- distress are present. If a child has any acute distress immediate medical intervention is needed. [18] Pediatric early warning score card
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]
Multiple epiphyseal dysplasia (MED), also known as Fairbank's disease, is a rare genetic disorder (dominant form: 1 in 10,000 births) that affects the growing ends of bones. Long bones normally elongate by expansion of cartilage in the growth plate (epiphyseal plate) near their ends.
Polymicrogyria may be just one piece of a syndrome of developmental abnormalities, because children born with it may have a wide spectrum of other problems, including global developmental disabilities, mild to severe intellectual disabilities, motor dysfunctions including speech and swallowing problems, respiratory problems, seizures. [4]