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They may vary in appearance but frequently develop into non-healing ulcers. Interstitial lung disease is also common. Some individuals may not experience any obvious skin issues. All affected children fail to thrive. [citation needed] Other features include myositis and joint stiffness. Some children experience hyper mobility, and joint pain.
Shoulder dystocia occurs after vaginal delivery of the head, when the baby's anterior shoulder is obstructed by the mother's pubic bone. [3] [1] It is typically diagnosed when the baby's shoulders fail to deliver despite gentle downward traction on the baby's head, requiring the need of special techniques to safely deliver the baby. [2]
Other signs of motor skills disorders may be children that are clumsy or have excessive accidents, such as knocking things over. Children who have trouble with complex physical activities such as dancing, swimming, catching or throwing a ball, or drawing may avoid these activities completely. [7]
The child remains conscious during episodes of infantile masturbation and can be distracted from the behavior, which could help rule out the suspicion of a serious condition. [5] Additional symptoms can include: rhythmic or rhythmical rubbing of genitals against objects or hands; [ 7 ] a fixated or dazed gaze; [ 8 ] straightening of the legs or ...
Children with classical, or severe, RCDP1 have severe developmental disabilities. Most of them achieve early developmental skills, such as smiling, but they will not develop skills expected from a baby older than six months (such as feeding themselves or walking). [4] By contrast, children with non-classical mild RCDP1 often learn to walk and ...
Food protein-induced enterocolitis syndrome (FPIES) is a systemic, non-immunoglobulin E -mediated food allergy to a specific trigger within food, most likely food protein. As opposed to the more common IgE food allergy, which presents within seconds with rash, hives, difficulty breathing or anaphylaxis, FPIES presents with a delayed reaction ...
However, the new mutation in the child becomes hereditary and can theoretically be passed on to the next generation. [3] All cases of Aicardi syndrome are thought to be due to new mutations. No person with Aicardi syndrome is known to have transmitted the X-linked gene responsible for the syndrome to the next generation. [5]
Ohtahara syndrome (OS), also known as Early Infantile Developmental & Epileptic Encephalopathy (EIDEE) [2] is a progressive epileptic encephalopathy.The syndrome is outwardly characterized by tonic spasms and partial seizures within the first few months of life, [3] and receives its more elaborate name from the pattern of burst activity on an electroencephalogram (EEG).