The word "Iniencephaly" is a rare neural tube defect that affects the development of the fetal brain and spine. The spelling of this term may seem daunting, but it can be easily broken down using the International Phonetic Alphabet (IPA). The first syllable is "ɪnɪəns", pronounced "ih-ni-uhns", which is followed by "ɛfəli", pronounced "ef-uh-lee". Put together, the word is pronounced "ih-ni-uhns-ef-uh-lee". While the condition itself is serious and can be fatal, understanding the correct pronunciation and spelling of the term can aid in accurate diagnosis and treatment.
Iniencephaly is a rare and severe congenital malformation of the central nervous system that affects the development of the brain and spine. The term originates from the Latin words "inio" meaning "to incline" and "encephalon" referring to the brain. This condition is characterized by a severe abnormality in the formation of the skull and spine, resulting in the head being bent backward and fixed in a sharply inclined position towards the spine.
In iniencephaly, the occipital bone at the back of the skull is absent, causing the skull to be abnormally extended and the face to appear fused with the chest. The spinal column is also affected, with significant defects such as the distortion of the cervical vertebrae and fusion of the upper cervical spine. These skeletal abnormalities result in a flexion deformity, where the head is retroflexed and attached to the chest wall.
Infants born with iniencephaly typically have a very poor prognosis due to the severity of the malformation and associated neurological complications. The brain abnormalities often lead to severe intellectual disabilities and neurological deficits. Additionally, respiratory difficulties may arise due to limited space in the chest cavity for the lungs to expand. Most cases of iniencephaly are identified prenatally during routine ultrasound examinations or through diagnostic imaging methods. However, if not detected before birth, the physical characteristics of iniencephaly become apparent at delivery.
Iniencephaly is considered a sporadic defect, meaning it is usually not associated with a genetic abnormality or family history. The exact cause of this condition remains unknown, although some cases have been linked to maternal exposure to certain medications or environmental factors during pregnancy.
The word "iniencephaly" comes from two Greek roots: "inio" which means "to incline" or "to bend forward", and "encephalos" which means "brain". Therefore, "iniencephaly" refers to a rare neural tube defect characterized by a severe bending of the head and the brain being partially or fully exposed.