Broad phenotypic presentation of the terminal 4q deletion syndrome is consistent with incomplete penetrance of the individual symptoms.… Metadaten Author: Thomas Haaf, Barbara Vona, Indrajit Nanda, Cordula Neuner, Jörg Schröder, Vera M. [opus.bibliothek.uni-wuerzburg.de]

At the present case the ray defects were bilateral but radial with left agenesis and right hypoplasia of radius. [hindawi.com]

The purpose of this study is to report a case of 4q deletion syndrome and describe its clinical manifestations, with particular attention to the craniofacial presentation and subsequent management of the syndrome, as well as its associated micrognathia [experts.umn.edu]

In PDA, the channel that is present between the pulmonary artery and the aorta during fetal development fails to close after birth. [rarediseases.org]

Broad phenotypic presentation of the terminal 4q deletion syndrome is consistent with incomplete penetrance of the individual symptoms. [ncbi.nlm.nih.gov]

• Macroglossia

  Results: 15 months old boy, first child of unrelated parents with severe bilateral blepharophimosis and ptosis, bilateral cataract, depressed nasal bridge, anteverted nostrils, macrostomia, macroglossia, bowed upper lip, malformed low-set ears, left broad [thieme-connect.com]

• Macrostomia

  Results: 15 months old boy, first child of unrelated parents with severe bilateral blepharophimosis and ptosis, bilateral cataract, depressed nasal bridge, anteverted nostrils, macrostomia, macroglossia, bowed upper lip, malformed low-set ears, left broad [thieme-connect.com]

• Short Humerus

  Radiographs showed a short humerus and absent ulna bilaterally. On the upper extremities there was only a single digit. [ashg.org]

• Small Eyes

  The major developmental defect include hypoplasia of left side of face, ipsilateral ptosis and small eyes, anteverted small nose and philtrum, small ear lobules and rudimentary left thumb while right thumb was absent. [ncbi.nlm.nih.gov]

• Keratosis

  Histopathology of skin biopsy from left upper arm evidenced mild hyper keratosis, focal acanthosis and spongiosis with moderate lymphocytic infiltrate in upper dermis. [ncbi.nlm.nih.gov]

• Cutaneous Manifestation

  Cutaneous manifestation of chromosomal disorders Chromosomal disorders may be due to abnormalities of chromosome number or structure. They may involve autosomes or sex chromosomes. [ncbi.nlm.nih.gov]

Method: A comprehensive workup, including an amniocentesis, was performed on a 32-week fetus presenting with massive hydrops and polyhydramnios. [karger.com]

• Lymphocytic Infiltrate

  Histopathology of skin biopsy from left upper arm evidenced mild hyper keratosis, focal acanthosis and spongiosis with moderate lymphocytic infiltrate in upper dermis. [ncbi.nlm.nih.gov]

For example, most children with (del)4q21.1-21.3 do not have heart issues · Neurological problems such as seizures, hypotonia, and delayed motor development (i.e. sitting up, walking, etc) Treatments Treatments Most treatments are symptomatic, but it [internationalpain.org]

Among treatment options, the investigators chose bilateral distraction osteogenesis of the mandible in order to increase the subject's posterior airway space. [experts.umn.edu]

Treatment for this deletion varies based on the signs and symptoms present in each person. [dovemed.com]

[…] distinctive craniofacial features, skeletal abnormalities, heart defects, intellectual disability, developmental delay, and short stature. [1] [2] Most cases are not inherited, although affected people can pass the deletion on to their children. [3] [4] Treatment [rarediseases.info.nih.gov]

The prognosis in children with 4q-syndrome, depends on the exact chromosomal breakpoint(s) [ 4, 12 ]. In 4q future research, genephenotype correlations are a central focus for global improvement [ 7 ]. [omicsonline.org]

Oral squamous cell carcinoma (OSCC) is a common malignancy worldwide and the prognosis for patients with advanced-stage OSCC is particularly poor. [pubfacts.com]

Ismail KM, Martin WL, Ghosh S, Whittle MJ, Kilby MD: Etiology and outcome of hydrops fetalis. J Matern Fetal Med 2001;10:175–181. [karger.com]

Terminal chromosome 4q deletion syndrome in an infant with hearing impairment and moderate syndromic features: review of literature 2014 4 41 44% The etiology of Wolf-Hirschhorn syndrome 2005 79 58 33% Prenatal diagnosis of Wolf-Hirschhorn syndrome confirmed [kth.se]

(Etiology) People with Chromosome 4q Deletion Syndrome are missing genetic material located on the long arm (q) of chromosome 4 in each cell Scientists suspect that many of the features seen in people affected by this condition are caused by the deletion [dovemed.com]

Genome-wide oligonucleotide array comparative genomic hybridization for etiological diagnosis of mental retardation: a multicenter experience of 1499 clinical cases. J Mol Diagn 2010;12:204–212. 12. Pinto D, Marshall C, Feuk L, Scherer SW. [synapse.koreamed.org]

[…] behavior; Mental illness; Intellectual disabilities; 4q- syndrome; Rare chromosome disorders Introduction Developmental disorders comprise a heterogeneous group of conditions characterized by an interruption in normal development during childhood with many etiologies [omicsonline.org]

Smith-Lemli-Opitz syndrome: phenotype, natural history, and epidemiology. Am J Med Genet C Semin Med Genet 2012;160C:250–262. 17. Weaver DD, Solomon BD, Akin-Samson K, Kelley RI, Muenke M. [synapse.koreamed.org]

Currently, Chromosome 4q Deletion Syndrome may not be preventable, since it is a genetic disorder. [dovemed.com]

Systematic review: Preventive and therapeutic applications of metformin in liver disease. World J Hepatol. 2015;7:1652: Ampuero J, Ranchal I, Nuñez D, et al. [sapd.es]