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Chromosome 18p Deletion Syndrome

De Grouchy syndrome


Presentation

  • All titles : " Chromosome 18p deletion syndrome presenting holoprosencephaly and premaxillary agenesis: Prenatal diagnosis and aCGH characterization using uncultured amniocytes "[agris.fao.org]
  • We present the case of a young girl in whom a chromosome 18p deletion syndrome (46,XX,del[18][p11.1]) was associated not only with IgA deficiency, but also with an inability to make antibody to the unconjugated pneumococcal polysaccharide vaccine, Pneumovax[ncbi.nlm.nih.gov]
  • This case report presents with characteristic features along with rare feature of single nostril.[ncbi.nlm.nih.gov]
Short Stature
  • stature & tapering fingers.[handresearch.com]
  • The main clinical features are short stature, round face with short philtrum, palpebral ptosis and large ears with detached pinnae. Intellectual deficiency is mild to moderate.[doi.org]
  • Mental retardation, short stature, and an abnormal facies are invariably present. About 9% of patients with this syndrome have cardiac pathology.[link.springer.com]
  • We report a female patient referred to us at age 18 years because of mental retardation associated with short stature. Similar clinical features are also seen in her mother.[scholars.uthscsa.edu]
  • Differential diagnosis Differential diagnosis may include a wide number of syndromes with short stature and mild intellectual deficiency.[orpha.net]
Failure to Thrive
  • Characteristic facial features (including prominent glabella leading to “Greek-warrior helmet appearance”), congenital heart disease, intellectual disability, seizures, failure to thrive, micrognathia, preauricular tags or pits, and hypodontia can also[perioimplantadvisory.com]
  • At the age of 5 she weighed only 26 pounds and a g-tube was placed for failure to thrive and aspiration problems.[mumsnet.com]
Abnormal Teeth
  • teeth spacing Abnormality of alignment of teeth Abnormality of teeth spacing Crooked teeth Malaligned teeth Malposition of teeth Malpositioned teeth [ more ] 0000692 Muscular hypotonia Low or weak muscle tone 0001252 Pectus excavatum Funnel chest 0000767[rarediseases.info.nih.gov]
Small Eyes
  • eye * Small feet * Small hands * Small head * Small lower jaw * Strabismus * Sunken chest * Tooth abnormalities * Wide-set eyes Prevention - Chromosome 18p deletion syndrome Not supplied.[checkorphan.org]
Hearing Impairment
  • impaired he has about 20% hearing left constipation problems facial tics developemental delays accross th eboard speech problems skin problems ecthama( i can't spell it) :) flat feet wide flat nasal bridge thin upper lip also had hard time nursing as[circleofmoms.com]
  • CrossRef Google Scholar Volume 114 , Issue 12 December 2000 , pp. 963-966 (a1) South West Thames Regional Genetics Service, St George’s Hospital Medical School , London, UK The 18q-syndrome is associated with hearing impairment in 50-80 per cent of cases[cambridge.org]
  • The phenotype is highly variable, but is characterized by mental retardation, short stature, hypotonia, hearing impairment, and foot deformities. The syndrome is often accompanied by selective IgA deficiency and associated autoimmune disease.[catalog.coriell.org]
  • Limb anomalies (including clubfoot, short thumbs) Eye movement disorders Genital hypoplasia: incomplete development of the genitals Hypotonia: poor muscle tone Hearing impairment Heart disease Skin manifestations Autism Behavioral Problems: might include[ulf.org]
  • Key features: Dysmyelination of the central nervous system (97%) Hypotonia (79%) Decreased or absent deep tendon reflexes (76%) Short stature (61-77% of patients are below the fifth percentile) Hearing impairment (70%) Mental retardation IQ 70 (68%) Gait[en.wikibooks.org]
Round Face
  • face * Small eye * Small feet * Small hands * Small head * Small lower jaw * Strabismus * Sunken chest * Tooth abnormalities * Wide-set eyes Prevention - Chromosome 18p deletion syndrome Not supplied.[checkorphan.org]
  • The main clinical manifestations are mental retardation, growth retardation, craniofacial dysmorphism including round face, dysplastic ears, wide mouth and dental anomalies, and abnormalities of the limbs, genitalia, brain, eyes, and heart.[omim.org]
  • The main clinical features are short stature, round face with short philtrum, palpebral ptosis and large ears with detached pinnae. Intellectual deficiency is mild to moderate.[orpha.net]
  • Affected neonates are hypotonic and have low birth weight, microcephaly, a round face with wide-set eyes, downward slanting of the palpebral fissures (with or without epicanthal folds), strabismus, and a broad-based nose.[merckmanuals.com]
Amenorrhea
  • * Juvenile diabetes * Autoimmune disorders * Thyroiditis * Graves disease * Male genital hypoplasia * Hypospadias * Intestinal malrotation * Septal defects Causes - Chromosome 18p deletion syndrome * Amenorrhea * Cataracts * Cleft palate * Delayed tooth[checkorphan.org]
  • Stoffer SS, Koen AL, Abbasi AA, Brown S (1981) Brief clinical report: 46, XX, del(18p) with amenorrhea, hypothyroidism, and ptosis. Am J Med Genet 9 :285–290 Google Scholar 27. Subrt I, Berankova J (1972) A case of the 18p- syndrome.[link.springer.com]

Workup

  • Initial Blood Workup Urine Tests During Pregnancy The Benefits of Prenatal Testing The 6 Most Common Genetic Screenings and Tests During Pregnancy It’s important to understand that microdeletions are present from conception and not a result of anything[whattoexpect.com]

Treatment

  • The baby was kept under regular follow-up as there were no observable signs and symptoms for immediate treatment.[jisppd.com]
  • Treatment is based on the signs and symptoms present in each person. This page is meant to provide general information about 18p deletions. You can contact GARD if you have questions about a specific deletion on chromosome 18.[malacards.org]
  • Treatment - Chromosome 18p deletion syndrome Not supplied. Resources - Chromosome 18p deletion syndrome Not supplied.[checkorphan.org]
  • Mouse models will also be developed to further our understanding of the effects of hemizygosity as well as to serve as models for treatment development. 2015 Wiley Periodicals, Inc.[doi.org]

Prognosis

  • Prognosis - Chromosome 18p deletion syndrome Not supplied. Treatment - Chromosome 18p deletion syndrome Not supplied. Resources - Chromosome 18p deletion syndrome Not supplied.[checkorphan.org]
  • There is a poor prognosis for those with severe brain malformations, most often they die in the newborn. There is low recurrence risk rate to siblings for those cases that arise de novo.[jisppd.com]
  • Prognosis Except for the patients with severe brain malformations, the life expectancy does not seem significantly reduced. The documents contained in this web site are presented for information purposes only.[orpha.net]
  • Prognosis The prognosis is poor for those patients with severe brain malformations; most often they die in the newborn period.[doi.org]
  • Prognosis is highly varied. Is there prenatal testing for 18q-Syndrome? 18q-Syndrome only appears in approximately 1 in every 40,000 births.[ulf.org]

Etiology

  • Etiology In two-thirds of the cases, the 18p- syndrome is due to a mere terminal deletion occurring de novo.[orpha.net]
  • Handbook of Genetic Counseling This page may need to be reviewed for quality. 18q Deletion Syndrome Genetic Etiology [ edit ] Caused by the deletion of the long arm of chromosome 18 (or, more often, a section of it) Incidence and Carrier Frequency [ edit[en.wikibooks.org]
  • Ten to fifteen percent of people with 18p- have holoprosencephaly, suggesting that other genetic and environmental facts play a role in the etiology of holoprosencephaly in these individuals.[en.wikipedia.org]
  • Etiology of Ibrutinib Therapy Discontinuation and Outcomes in Patients With Chronic Lymphocytic Leukemia. JAMA Oncol 2015;1:80-7. [ Crossref ] [ PubMed ] Woyach JA, Furman RR, Liu TM, et al.[atm.amegroups.com]
  • The likelihood of a genetic or teratogenic etiology increases the more congenital anomalies with which a patient presents.[perioimplantadvisory.com]

Epidemiology

  • Summary Epidemiology The incidence is estimated to be about 1:50,000 live-born infants. Clinical description In the commonest form of the disorder, the dysmorphic syndrome is very moderate and non-specific.[orpha.net]
  • Disease Acute Myeloid Leukemia (AML) Epidemiology del(18)(p11) is found in 9 cases ( 0.1% of all AML cases with an abnormal karyotype) (Alimena et al., 1981; Brodeur et al., 1983; GFCH, 1990; Lawler et al., 1990; Mohamed et al., 1993; Davey et al., 1995[atlasgeneticsoncology.org]
  • Cleft lip with or without cleft palate (CL/CP) differs from an isolated cleft palate (CP) on embryonic, epidemiologic, and genetic levels.[perioimplantadvisory.com]
  • Epidemiology More than 150 patients have been reported worldwide and most cases are no longer subject to publication. The incidence of the disorder could be estimated as about 1:50,000 live-born infants. The female to male ratio is 3/2.[doi.org]
Sex distribution
Age distribution

Prevention

  • KEYWORDS: Deletion 18p syndrome; monosomy 18p; short neck; single nostril; ocular hypertelorism; JOURNAL: Journal of Indian Society of Pedodontics and Preventive Dentistry SOURCE: Wolters Kluwer文献 DOI: 10.4103/0970-4388.127063 YEAR: 2014 PAGES: 68-70[kns.cnki.net]
  • Juvenile diabetes * Large mouth * Low nasal bridge * Mental retardation * Nystagmus * Reduced muscle tone * Round face * Small eye * Small feet * Small hands * Small head * Small lower jaw * Strabismus * Sunken chest * Tooth abnormalities * Wide-set eyes Prevention[checkorphan.org]
  • If parents wish to have a child then in vitro fertilization can be advised with embryo biopsy and only healthy embryos are transferred to mother uterus to prevent transmission of 18p deletion. [8] Table 1: Clinical features observed in deletion of the[jisppd.com]
  • Health information on this site is based on peer-reviewed medical journals and highly respected health organizations and institutions including ACOG (American College of Obstetricians and Gynecologists), CDC (Centers for Disease Control and Prevention[whattoexpect.com]
  • For the National Birth Defects Prevention Network. Updated national birth prevalence estimates for selected birth defects in the United States. 2004-2006. Birth Defects Research (Part A): Clinical and Molecular Teratology 2010;88:1008-1016. 3.[perioimplantadvisory.com]

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