This lead to the diagnosis of NF1 microdeletion syndrome. 1 SHORT REPORT We present a first case report from Oman of a 20‐month‐old male child presenting with a neurofibromatosis‐1 phenotype combined with webbed neck and short stature. [onlinelibrary.wiley.com]

We present a 3 year old girl, born to consanguineous Sephardic Jewish parents, who are known carriers of Sandhoff disease, for which prenatal diagnosis was performed with normal results. [ashg.org]

Neurofibromatosis type I (NF1) microdeletion syndrome, which is present in 4–11% of NF1 patients, is associated with a severe phenotype as it is caused by the deletion of NF1 and other genes in the 17q11.2 region. [moh-it.pure.elsevier.com]

Case presentation Here we reported a patient carrying a novel de novo deletion at 17q11.2 adjacent to NF1 gene, who presented with developmental delay, short stature, postnatal microcephaly, underweight and dysmorphic features including flat facial profile [molecularcytogenetics.biomedcentral.com]

Here, we present another patient with 17q11.2 duplication and no signs of neurofibromatosis type 1, identified by array-CGH. We compared clinical features and genetic data with those of previously reported patients with 17q11.2 microduplications. [ncbi.nlm.nih.gov]

• Enamel Anomaly

  (no data available) External references: 1 OMIM reference - No MeSH references External references: 1 OMIM reference - No MeSH references 17q11.2 microduplication syndrome Very frequent - Total / partial trisomy / duplication Frequent - Alopecia - Enamel [csbg.cnb.csic.es]

• Small Teeth

  teeth, while the family reported by Grisart et al. 22 had dental enamel hypoplasia. [nature.com]

• Short Fifth Finger

  She presented with mild dysmorphic features including flat facial profile, dolicocephaly, hypertelorism, short philtrum, flat nasal bridge and posteriorly rotated and low set ears. She also had a short fifth finger on both hand (Fig. 1). [molecularcytogenetics.biomedcentral.com]

• Low-Set Posteriorly Rotated Ears

  rotated and low set ears. [molecularcytogenetics.biomedcentral.com]

• Thin Eyebrows

  Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Thin / retracted lips 17q11 microdeletion syndrome (no data available) [csbg.cnb.csic.es]

• Premature Balding

  Premature balding, present in the previously reported family, was not present in our cohort, which may be due to the relative younger ages of the subjects. [nature.com]

• Bifid Tip of Nose

  tip / cleft nose / supernumerary nose - Flared / thick ala nasi - Flat cheek bones / malar hypoplasia - Long midface - Macroorchidism / macrotestes - Nasal septum deviation - Seizures / epilepsy / absences / spasms / status epilepticus - Speech troubles [csbg.cnb.csic.es]

• Aphasia

  […] cleft nose / supernumerary nose - Flared / thick ala nasi - Flat cheek bones / malar hypoplasia - Long midface - Macroorchidism / macrotestes - Nasal septum deviation - Seizures / epilepsy / absences / spasms / status epilepticus - Speech troubles / aphasia [csbg.cnb.csic.es]

• Echolalia

  […] supernumerary nose - Flared / thick ala nasi - Flat cheek bones / malar hypoplasia - Long midface - Macroorchidism / macrotestes - Nasal septum deviation - Seizures / epilepsy / absences / spasms / status epilepticus - Speech troubles / aphasia / dysphasia / echolalia [csbg.cnb.csic.es]

• Neglect

  Key Features: Provides thorough information on understanding functional neuroanatomy and development, and on using functional neuroimaging Highlights clinical practice issues, such as legal and ethical decision-making, dealing with child abuse and neglect [books.google.de]

Clinical Testing and Workup In the past, a specific chromosomal study known as G-band analysis, which demonstrates missing (deleted) material on chromosome 17p, was used to help obtain a diagnosis of SMS. [rarediseases.org]

• Echocardiogram Normal

  Normal at last evaluation Low set ears Whole Spin X‐ray: Inferior peaking of upper lumbar vertebrae Broad forehead CT Brain: Normal Down‐slanting palpebral fissures Depressed nasal bridge NS‐like phenotype Kyphosis Webbed neck Hypertelorism Short stature [onlinelibrary.wiley.com]

It focuses on the genetics and molecular biology underlying these diseases, but also covers their clinical features, diagnosis and treatment, stressing the need for interdisciplinary medical care. [books.google.com]

Diagnosis - Neurofibromatosis type 1 Prognosis - Neurofibromatosis type 1 Treatment - Neurofibromatosis type 1 There is no cure for the disorder itself. [checkorphan.org]

Standard Therapies Treatment Treatment may require the coordinated efforts of a team of specialists. [rarediseases.org]

The variable expressivity of the disease makes it challenging to establish genotype–phenotype correlations, which also affects prognosis and counselling. We here describe a 3-year-old NF1 patient with an atypical deletion and a complex phenotype. [moh-it.pure.elsevier.com]

Diagnosis - Neurofibromatosis type 1 Prognosis - Neurofibromatosis type 1 Treatment - Neurofibromatosis type 1 There is no cure for the disorder itself. [checkorphan.org]

Prognosis Because of the highly variable nature of SMS, it is impossible to generalize about prognosis for individual cases. [rarediseases.org]

Etiology Germline and mosaic microdeletions of the NF1 gene and its flanking regions caused by non-allelic homologous recombination are reported in patients with this disorder. Most occur de novo. [malacards.org]

[…] data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant Epidemiological data: (no data available) External references: 1 OMIM reference - No MeSH references External [csbg.cnb.csic.es]

This new edition contains several chapters on the associated problems of autism, such as intellectual disability, epilepsy, tics, eating disorders and sleep problems, as well as a chapter on epidemiology that documents the historical increase in autism [books.google.com]

Epidemiology The prevalence of 17q11 microdeletion syndrome is not known. About 5% of NF1 cases are reported to have deletions of the entire NF1 gene. More than 170 affected patients have been reported to date. [malacards.org]

Epidemiology The prevalence of 17q11 microdeletion syndrome is not known. About 5% of NF1 cases are reported to have deletions of the entire NF1gene. More than 170 affected patients have been reported to date. [rarediseases.info.nih.gov]

Identification of several chromosomal aberrations may be especially important, given the unknown pathophysiology, the paucity of known br... more This case series reinforces findings from previous studies of 22q11.2 deletion syndrome (22q11.2DS) and presents [scinapse.io]

The pathophysiology and genetics of congenital lipoid adrenal hyperplasia. N Engl J Med 335: 1870, 2005. CrossRef Google Scholar 9. Andersson HC, Frentz J, Martinez JE, Tuck-Muller CM, Bellizaire J. [link.springer.com]

This deletion includes the MBD5 gene, which is implicated in the pathophysiology of seizures. Stereotyped behaviors are also present and these are similar to Rett syndrome or Angelman syndrome. [scielo.br]

Symptoms - Neurofibromatosis type 1 Causes - Neurofibromatosis type 1 Prevention - Neurofibromatosis type 1 NF-1 cannot be prevented. [checkorphan.org]

Department of Genetic and Metabolic Central Laboratory, Guangxi Maternal and Child Health Hospital, Guangxi Birth Defects Prevention and Control Institute, No 59, Xiangzhu Road, Nanning, China. [pubfacts.com]

[…] treatment of complications.10, 11 We referred the patient to appropriate specialists as part of a management plan to include regular clinical evaluation, assessment of developmental milestones and annual ophthalmologic examination to enable early or preventive [onlinelibrary.wiley.com]

[…] examinons les donnees indiquant que la schizophrenie ap... more The mental well-being of humans depends on the discovery of the causes of mental illnesses and the use of this knowledge to direct the generation of new treatments and the development of preventive [scinapse.io]

[…] of different sources are used :  Registries (RARECARE, EUROCAT, etc) ;  National/international health institutes and agencies (Institut National de Veille Sanitaire (French Institute of Health Surveillance); American Center of Disease Control and Prevention [azkurs.org]