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3 yr old Ella

 
 
 
2009, Feb.2nd, Ella
SN: SN: postoperative CHD (ASD VSD); abnormal chromosome; karyotype46, xx,r(15); retard development
 
 She is an active girl with a strong mind. Although she is weak physically, she tried her best in doing everything. She could zip her clothes by herself, and she has learned to eat by herself. She wears diapers usually, but the caretakers would train her to defecate every month. As for physical development, now she can walk steadily on her own, and she can run and jump flexibly. She is excited to meet people and she would run around when she is excited. She was not fond of TV, but she could turn on the TV. She loves to eat snacks, especially fruit and candies. She likes to have meat. On language ability, she can speak, but basically phrases with 2-3 words. She could distinguish acquaintances and strangers. She can play with people she is not familiar with, but she would not leave home with them. She has skin problems, sometimes she would suffer from allergy itching and other symptoms. She was allergic to Cefixime for Suspension, and she would have red rash.
 
Her weight: 10.5 kg, height: 84 cm, head size: 43 cm, chest size: 46.5 cm, 20 teeth
 
It sounds like this child has an extremely rare genetic condition called Ring Chromosome 15 Syndrome, which resulted in a combination of heart and lung problems, growth retardation, and perhaps other symptoms not mentioned in the short summary you quoted. Apparently only 50 cases of this condition have been reported since it was first identified in 1966.

This technical paper describes a possibly similar case: http://www.hkjpaed.org/pdf/2011;16;175-179.pdf


 

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