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Mostly the disease presents with abnormalities solely affecting the face, ear, and eyes. Maxillae- Small and underdeveloped giving the false impression of a large nose.
Mandible- small, gives the appearance of a receding chin which incites respiratory and feeding problems at early days of life due to frequent dropping back of tiny underdeveloped jaw by falling back of the tongue to the upper airway during relaxation of muscles, especially in sleep.
It is advised to put these babies on their sides during sleep to prevent this occurrence. Eyes- Downward slant with colobomas noted.
Vision may be affected due to underdeveloped orbit and orbital muscles. Ears- External ear is mostly rotated, malformed, or small. The absence of an external auditory canal is also noted.
More than 50 percent of cases present with a conductive type of hearing loss. Intelligence- Normal. Ultrasonography of biophysical profile would be able to detect major craniofacial bony abnormalities but unfortunately likely to miss subtle changes.
As the clinical presentation closely resembles other genetic disorders such as Goldenhar Syndrome or CHARGE syndrome, OMENS classification was developed to differentiate the diseases and also its severity.
It is described below-. OMENS Classification. Orbital symmetry. O0- Normal orbital size, position O1- Abnormal orbit size O2- Abnormal orbit position.
O3- Abnormal orbit position, size. M0: Normal mandible M1: Small mandible and glenoid fossa with short ramus M2: Ramus short and abnormally shaped 2A: Glenoid fossa in an anatomically acceptable position 2B: Tempero mandibular joint inferiorly TMJ , medially, anteriorly displaced, with the severely hypoplastic condyle M3: Complete absence of ramus, glenoid fossa, and TMJ.
E0: Normal ear E1: Minor hypoplasia and cupping with all structures present E2: Absence of external auditory canal with variable hypoplasia of the auricle E3: Malposition of the lobule with absent auricle, lobular remnant usually inferior anteriorly displaced.
Facial nerve. N0: No facial nerve involvement N1: Upper facial nerve involvement temporal or zygomatic branches N2: Lower facial nerve involvement buccal, mandibular or cervical N3: All branches affected.
Soft tissue. S0: No soft tissue or muscle deficiency S1: Minimal tissue or muscle deficiency S2: Moderate tissue or muscle deficiency S3: Severe tissue or muscle deficiency.
Differential diagnosis. Acrofacial dysostosis Goldenhar syndrome X-linked dominant maxillofacial dysostosis.
Early feeding and respiratory difficulties must be recognized early and managed appropriately. Nasogastric feeding may be necessary if sucking is difficult and in extreme respiratory problem temporary tracheostomy is indicated.
Putting the child to side position during sleep is also recommended. Early diagnosis of conductive deafness is very important.
Otherwise learning difficulty may ensue. Hearing aids from an early age facilitates good achievement in all developmental fields.
Surgery may be needed for cleft palate if it is present. Emotional support should be prioritized as the affected children are frequently subject of bullying and teasing in school.
Various reconstructive plastic surgeries can improve the appearance and functionality. Life expectancy is normal. IQ is normal. This may occur as a result of a number of conditions, including diabetes, atherosclerosis — either related to diabetes or hyperlipidemia, thrombosis — a clot in a blood vessel, also related to atherosclerosis or extreme cold injury.
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