Title An Unconventional Presentation of Branchio-Oculo-Facial Syndrome. [hsrc.himmelfarb.gwu.edu]

Hing et al10 described a patient presenting multiple malformations and AVSD resembling BOFS. He presented some atypical findings such as holoprosencephaly and meningoencephalocele. [scielo.br]

We present an 18-day old boy with bilateral cervical cutaneous defect in the retroauricular region, low-set and posteriorly rotated ears, bilateral microphtalmia and bilateral pseudocleft of the upper lip. [miami.pure.elsevier.com]

The authors present the case of an infant with an unconventional presentation of BOFS to highlight key distinguishing features of this disorder, and to emphasize the importance of a multidisciplinary approach in the diagnosis and management of these patients [ncbi.nlm.nih.gov]

• Short Stature

  Genes related to Branchio-oculo-facial Syndrome TFAP2A View recommended genes panels Clinical Features Top most frequent phenotypes and symptoms related to Branchio-oculo-facial Syndrome Seizures Short stature Hearing impairment Microcephaly Growth delay [mendelian.co]

  Our long-term observations include hypernasal speech with mild conductive hear- ing loss, postnatal growth retardation with mild short stature, and normal intelligence. [documents.tips]

  Efthymiadou A, Stefanou EG, Chrysis D.45,X/46,XY mosaicism: a cause of short stature in males. Hormones (Athens). 2012;11:501–4. Ford CE, Jones KW, Polani PE, De Almeida JC, Briggs JH. [karger.com]

  […] columella / depressed nasal tip - Short stature / dwarfism / nanism - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Upslanted palpebral fissures / mongoloid slanting palpebral fissures Occasional - Agenesis / [csbg.cnb.csic.es]

  Children who reach puberty early tend to have short stature as adults. McCune-Albright syndrome may also affect the thyroid. The thyroid gland, located at the base of the neck, may become enlarged. [chop.edu]

• Atrial Septal Defect

  septal defect, ostium secundum type Atrial septal defect, sinus venosus type Single ventricular septal defect Situs inversus totalis Tetralogy of Fallot Scalp-ear-nipple syndrome APC-related attenuated familial adenomatous polyposis Acute myeloblastic [csbg.cnb.csic.es]

  Atrial Septal defect and Tetralogy of Fallot’s have been described in association with BOFS(1,2). Neuro-development is normal; cases of moderate to severe retardation with hypotonia, visual, hearing and speech problems have been reported. [indianpediatrics.net]

  However, in our review, we found four confirmed cases of BOFS presenting CHD which included: ostium secundum atrial septal defect (two cases)3,7, tetralogy of Fallot (one case)5 and pulmonary valve stenosis (one case)8 (Table 1). [scielo.br]

• Surgical Procedure

  Further medication and surgical procedures may be required to treat the kidney issues Life-long monitoring of the symptoms may be required in individuals with the disorder. [dovemed.com]

  A surgical procedure known as the LeFort procedure is carried out when the child has grown substantially to correct the concave appearance of the mid-face region. [cleft.ie]

• Pulmonary Valve Stenosis

  However, in our review, we found four confirmed cases of BOFS presenting CHD which included: ostium secundum atrial septal defect (two cases)3,7, tetralogy of Fallot (one case)5 and pulmonary valve stenosis (one case)8 (Table 1). [scielo.br]

• Trisomy 21

  Seite 194 - Carey, JC: Health supervision and anticipatory guidance for children with genetic disorders (including specific recommendations for trisomy 21, trisomy 18 and neurofibromatosis I). Pediatr. Clin. North Am., 39:25, 1992. ‎ [books.google.de]

  Trisomy 21 mosaicism: we may all have a touch of Down syndrome. Cytogenet Genome Res. 2013;139(3):189–92. Article PubMed Google Scholar Iourov IY, Vorsanova SG, Yurov YB. [molecularcytogenetics.biomedcentral.com]

• Pneumonia

  Differential diagnoses include congenital heart disease, viral pneumonia, and Duchenne muscular dystrophy. [appliedradiology.com]

  Breathing problems, asthma and pneumonia and breathing problems during sleep (sleep apnea). Frequent infections of the ears, nose, and throat, especially during infancy and early childhood. Teeth problems - crowded or uneven teeth. [genome.gov]

  Children often have chronic ear and sinus infections, respiratory infections, and pneumonia. Sleep apnea, a condition in which breathing is intermittently interrupted during sleep, is often present because of airway constriction. [mayoclinic.org]

• Heart Disease

  Eye Health Gastrointestinal Health Heart Disease High Blood Pressure Lung Cancer Mental Health Pregnancy Type 1 Diabetes Type 2 Diabetes Sexual Health Sleep View Health A-Z ×Top Health Categories Coronavirus Disease COVID-19 Gastrointestinal Health Monkeypox [news-medical.net]

  Congenital heart disease and genetic syndromes: specific correlation between cardiac phenotype and genotype. Cardiovasc Pathol. 2000; 9: 303-15. 10. Hing AV, Torack R, Dowton SB. A lethal syndrome resembling branchio-oculo-facial syndrome. [scielo.br]

  Zuckerberg, Critical Heart Disease in Infants and Children, 2006, 951 CrossRef 12 Christiane Tasse, Stefan Böhringer, Sven Fischer, Hermann-Josef Lüdecke, Beate Albrecht, Denise Horn, Andreas Janecke, Rainer Kling, Rainer König, Birgit Lorenz, Frank Majewski [onlinelibrary.wiley.com]

• Premature Graying of the Hair

  Apart from congenitalnasolacrimal duct defect for which she was operated in earlychildhood, she had a small papillary coloboma in the left eye withno visual consequences and premature graying of the hair at the ageof 30. [documents.tips]

• Skin Patch

  Skip to content Branchio-oculo-facial Syndrome (BOF) Branchio-oculo-facial Syndrome (BOF) This is a very rare birth defect that is characterized by low birth weight and distinctive malformations of the head and facial area; abnormal skin patches on the [facesofchildren.org]

• Muscle Hypotonia

  A constellation of findings including recurrent infections, neutropenia, CHF, and skeletal muscle hypotonia should warrant further genetics testing to evaluate for the disease. [appliedradiology.com]

• Small Palpebral Fissures

  On clinical examination, he presented growth retardation, epicanthal folds, small palpebral fissures, telecanthus, broadened nasal bridge, lip pseudocleft, micrognathia, dysplastic and posteriorly-rotated ears, branchial clefts, short and webbed neck, [scielo.br]

• Suggestibility

  Suggested Citation: Suggested Citation Laugsch, Magdalena and Bartusel, Michaela and Alirzayeva, Hafiza and Karaolidou, Agathi and Rehimi, Rizwan and Crispatzu, Giuliano and Nikolic, Milos and Bleckwehl, Tore and Kolovos, Petros and van Ijcken, Wilfred [papers.ssrn.com]

  Finally, it suggests that individuals with unexplained cardiomyopathy and dysmorphic facial features may benefit from CMA analysis. [ncbi.nlm.nih.gov]

  As its name suggests, this protein is a transcription ... 3 ... [familydiagnosis.com]

  RESULTS Clinical features and investigations are suggestive of branchio-oculo-facial syndrome. [proceedings.aios.org]

• Cesarean Section

  He was born at the 36th week gestation, by cesarean section, in breech presentation. His birth weight was 2870 g (10-50th percentile), his height was 45 cm (10-50th percentile) and the 5-minute Apgar score was 9. [scielo.br]

Management and treatment Management is symptomatic and includes combined treatments for hearing impairment and for skin lesions. Prognosis Prognosis is function of the severity of associated manifestations. [orpha.net]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]

Treatment Treatment Options: Treatment requires a multidisciplinary approach with oculoplastic, ophthalmic, and ENT surgeons. Physical, speech, hearing, and learning specialists can be helpful. [disorders.eyes.arizona.edu]

Prognosis Prognosis is function of the severity of associated manifestations. The documents contained in this web site are presented for information purposes only. [orpha.net]

More generally, our results highlight potential etiological mechanisms for other human NC-related abnormalities and illustrate how structural variation can lead to a loss of enhancer-gene interactions and, consequently, to pathological changes in gene [papers.ssrn.com]

Etiology BOFS is caused by mutations involving the gene TFAP2A (transcription factor AP-2 alpha; 6p24). Diagnostic methods Diagnosis is clinical and may be confirmed by DNA analysis. [orpha.net]

More generally, our results highlight potential etiological mechanisms for other human neurocristopathies and illustrate how TAD disruption can lead to a loss of enhancer gene-interactions and, consequently, to pathological changes in gene expression. [omictools.com]

Epidemiology It was estimated that only about 50 cases of BOFS have been documented in the medical literature as of 2004. [4] References [ipfs.io]

Summary Epidemiology About fifty cases have been reported so far. [orpha.net]

Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular [books.google.de]

Cologne (CMMC) Petros Kolovos University of Copenhagen - Biotech Research and Innovation Centre (BRIC) Wilfred F.J. van Ijcken Erasmus University Rotterdam (EUR) - Erasmus Medical Center (MC) Tomo Šarić University of Cologne - Center for Physiology and Pathophysiology [papers.ssrn.com]

This syndrome is restricted to the face, but it can also cause underdeveloped or malformed kidneys. [3] Pathophysiology and genetics The disease is genetically inherited and stems from a mutation that deletes the TFAP2A gene. [ipfs.io]

This syndrome is restricted to the face, but it can also cause underdeveloped or malformed kidneys. [3] Pathophysiology and genetics [ edit ] The disease is genetically inherited and stems from a mutation that deletes the TFAP2A gene. [en.wikipedia.org]

“We can prevent these things from happening,” Anderson says. “And we’ll still have good athletes and a good game of football.” Of course, prevention requires change. And it’s unclear how far college football is willing to go. [theguardian.com]

The Fragile-X mutation results in an FMR1 gene that is switched off, which means that FMRP is no longer produced, preventing normal neuronal development. Symptoms of Fragile-X syndrome are more severe in males compared with females. [yourgenome.org]

[…] diet therapy DT drug therapy EC economics EM embryology EN enzymology EP epidemiology EH ethnology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PS parasitology PA pathology PP physiopathology PC prevention [decs.bvs.br]

Control and Prevention) FastStats: Birth Defects or Congenital Anomalies (National Center for Health Statistics) National Birth Defects Prevention Study (NBDPS) (Centers for Disease Control and Prevention) Congenital anomalies were diagnosed in 41/196 [copy.freska66.ru]