Moderate to severe mental retardation may also be present. [rarediseases.org]

Diaphragmatic hernia was present in all cases, anorectal anomalies and cleft palate in two cases (7,8). Sacral appendage was present in only one case in addition to the present case (8). [latunisiemedicale.com]

Figure 3. a) Front-view of patient’s hands presenting camptodactyly and adducted thumbs, b) frontview of feet, showing adduction of toes. [scielo.org.ar]

• Strabismus

  In addition, several critical regions implicated in sensorial hearing loss and strabismus (1-1,192,031 region), as well as for scoliosis and kyphosis (1-2,931,532 region) can explain the clinical presentation. [scielo.org.ar]

  In some cases, people with Chromosome 9, Tetrasomy 9p may have additional physical abnormalities, including heart (cardiac) malformations and/or abnormalities of the eyes, such as sinking in of the eyeballs (enophthalmos) and/or crossing of the eyes (strabismus [rarediseases.org]

Standard Therapies Treatment The treatment of Chromosome 9, Tetrasomy 9p is directed toward the specific symptoms that are apparent in each individual. [rarediseases.org]

The latter will allow the patient to receive early and proper treatment, specifically for the ophthalmological and audiological features. Also, neurological, cardiac and gastrointestinal follow-ups would prevent the described clinical implications. [scielo.org.ar]

Associated diaphragmatic hernia makes poor prognosis and leads to perinatally death. Pallister PD, Meisner LF, Elejalde BR, et al. The Pallister mosaic syndrome. In: Bergsma D, Lowry RB. eds. [latunisiemedicale.com]

Future reports will allow to establish accurate data on its incidence and prognosis, raising awareness of its relevance to physicians. [scielo.org.ar]

At the suspicion of this etiology, it is important to detect small supernumerary i(18p) by cytogenetic analysis, FISH, PCR, MLPA and, in some cases, array techniques. Parental testing is highly recommended. [scielo.org.ar]

Also, neurological, cardiac and gastrointestinal follow-ups would prevent the described clinical implications. It is important to give genetic counseling to the guardians. BIBLIOGRAPHY 1. [scielo.org.ar]