Presentation
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]
Entire Body System
- Developmental Delay
His main clinical features were microcephaly, facial dysmorphism, generalized hypotonia, and developmental delay. [scielo.org.ar]
- Feeding Difficulties
Also, feeding difficulties and musculoskeletal disorders were reported. Unlike to the lack of sex predisposition, the literature reported a majority of female patients, whereas in this study, we present a male patient. [scielo.org.ar]
- Short Stature
The patient showed hyperactivity, hand-flapping, short-stature, eye abnormalities, and hypotonia, which have been reported in males with tetrasomy of chromosome 15. [deepblue.lib.umich.edu]
Musculoskeletal
- Short Arm
Each chromosome has a short arm designated as “p” and a long arm identified by the letter “q”. [rarediseases.org]
GTG-banded karyotype where the short arm isochromosome of chromosome 18, i(18) (p10) is shown. Figure 5. FISH over metaphase, isochromosome i(18p) shows two signals for short arm and one centromeric. [scielo.org.ar]
Including an example of probable trisomy for the short arm of the C group chromosome No. 9. Ann. Génét.12, 15–27 (1969) Google Scholar Cantu, J. M., Buentello, L., Armendares, S.: Trisomie Cp: un nouveau syndrome. Ann. [link.springer.com]
Face, Head & Neck
- Hypertelorism
Physical examination showed facial dysmorphim: “coarse” face with flat profile and high forehead, hypertelorism, upslanting palpebral fissures, and a broad, flat nasal bridge. The month was large with downturned corners and thin lips (fig 1). [latunisiemedicale.com]
[…] the disorder may include abnormalities of the head and facial (craniofacial) area, such as an unusually small head (microcephaly), abnormally wide spaces between fibrous joints (sutures) and bones in the skull (fontanelles), widely spaced eyes (ocular hypertelorism [rarediseases.org]
Neurologic
- Confusion
As neither of these features is invariably present, McLeod and al suggest that infants with diaphragmatic hernia and other malformations should have skin fibroblast karyotype analysis to avoid confusion with Fryns syndrome(8). [latunisiemedicale.com]
Treatment
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]
Prognosis
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]
Etiology
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]
Prevention
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]