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Results: 5

1.

Osteogenesis imperfecta

COL1A1/2-related osteogenesis imperfecta (OI) is characterized by fractures with minimal or absent trauma, variable dentinogenesis imperfecta (DI), and, in adult years, hearing loss. The clinical features of COL1A1/2-related OI represent a continuum ranging from perinatal lethality to individuals with severe skeletal deformities, mobility impairments, and very short stature to nearly asymptomatic individuals with a mild predisposition to fractures, normal dentition, normal stature, and normal life span. Fractures can occur in any bone, but are most common in the extremities. DI is characterized by grey or brown teeth that may appear translucent and wear down and break easily. COL1A1/2-related OI has been classified into four types (I, II, III, and IV) based on clinical presentation and radiographic findings. This classification system can be helpful in providing information about prognosis and management for a given individual. The four OI types are now referred to as follows: OI type I: classic non-deforming OI with blue sclerae. OI type II: perinatally lethal OI. OI type III: progressively deforming OI. OI type IV: common variable OI with normal sclerae. [from GeneReviews]

MedGen UID:
45246
Concept ID:
C0029434
Congenital Abnormality
2.

Child abuse

Child abuse is doing something or failing to do something that results in harm to a child or puts a child at risk of harm. Child abuse can be physical, sexual or emotional. Neglect, or not providing for a child's needs, is also a form of abuse. . Most abused children suffer greater emotional than physical damage. An abused child may become depressed. He or she may withdraw, think of suicide or become violent. An older child may use drugs or alcohol, try to run away or abuse others. . Child abuse is a serious problem. If you suspect a child is being abused or neglected, call the police or your local child welfare agency.  [from MedlinePlus]

MedGen UID:
3364
Concept ID:
C0008060
Mental or Behavioral Dysfunction
3.

Victim of abuse finding

Indication of abuse victim.  [from HL7]

MedGen UID:
646740
Concept ID:
C0562381
Finding
4.

Suspected child abuse

MedGen UID:
664537
Concept ID:
C0581839
Finding
5.

Recurrent fractures

The repeated occurence of bone fractures (implying an abnormally increased tendency for fracture). [from HPO]

MedGen UID:
500939
Concept ID:
CN002502
Finding

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