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Muenke syndrome :
Muenke syndrome : An international multicenter natural history study
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- Kruszka, Paul (författare)
- NIH, Med Genet Branch, Natl Human Genome Res Inst, 35 Convent Dr, Room 1B203, Bethesda, MD 20892 USA
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- Addissie, Yonit A. (författare)
- NIH, Med Genet Branch, Natl Human Genome Res Inst, 35 Convent Dr, Room 1B203, Bethesda, MD 20892 USA
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- Yarnell, Colin M. P. (författare)
- NIH, Med Genet Branch, Natl Human Genome Res Inst, 35 Convent Dr, Room 1B203, Bethesda, MD 20892 USA
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- Hadley, Donald W. (författare)
- NIH, Med Genet Branch, Natl Human Genome Res Inst, 35 Convent Dr, Room 1B203, Bethesda, MD 20892 USA
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- Guillen Sacoto, Maria J. (författare)
- NIH, Med Genet Branch, Natl Human Genome Res Inst, 35 Convent Dr, Room 1B203, Bethesda, MD 20892 USA
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- Platte, Petra (författare)
- Univ Wurzburg, Clin Psychol & Psychotherapy, Dept Biol Psychol, Wurzburg, Germany
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- Paelecke, Yvonne (författare)
- Univ Wurzburg, Clin Psychol & Psychotherapy, Dept Biol Psychol, Wurzburg, Germany
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- Collmann, Hartmut (författare)
- Univ Wurzburg, Dept Neurosurg, Sect Pediat Neurosurg, Wurzburg, Germany
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- Snow, Nicole (författare)
- Univ New S Wales, Sydney Childrens Hosp, Sydney, NSW, Australia; Garvan Inst, Kinghorn Ctr Clin Gen, Sydney, NSW, Australia
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- Schweitzer, Tilmann (författare)
- Univ Wurzburg, Dept Neurosurg, Sect Pediat Neurosurg, Wurzburg, Germany
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- Boyadjiev, Simeon A. (författare)
- Univ Calif Davis, Genet Sect, Dept Pediat, Sacramento, CA 95817 USA
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- Aravidis, Christos (författare)
- Uppsala universitet,Medicinsk genetik och genomik,Klinisk genetik
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- Hall, Samantha E. (författare)
- Boston Childrens Hosp, Dept Plast & Oral Surg, Boston, MA USA
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- Mulliken, John B. (författare)
- Boston Childrens Hosp, Dept Plast & Oral Surg, Boston, MA USA
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- Roscioli, Tony (författare)
- Univ Wurzburg, Dept Neurosurg, Sect Pediat Neurosurg, Wurzburg, Germany; Univ New S Wales, Sydney Childrens Hosp, Sydney, NSW, Australia
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- Muenke, Maximilian (författare)
- NIH, Med Genet Branch, Natl Human Genome Res Inst, 35 Convent Dr, Room 1B203, Bethesda, MD 20892 USA
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(creator_code:org_t)
- 2016-01-06
- 2016
- Engelska.
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Ingår i: American Journal of Medical Genetics. Part A. - : Wiley. - 1552-4825 .- 1552-4833. ; 170:4, s. 918-929
- Relaterad länk:
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
Ämnesord
Stäng
- Muenke syndrome is an autosomal dominant disorder characterized by coronal suture craniosynostosis, hearing loss, developmental delay, carpal, and calcaneal fusions, and behavioral differences. Reduced penetrance and variable expressivity contribute to the wide spectrum of clinical findings. Muenke syndrome constitutes the most common syndromic form of craniosynostosis, with an incidence of 1 in 30,000 births and is defined by the presence of the p.Pro250Arg mutation in FGFR3. Participants were recruited from international craniofacial surgery and genetic clinics. Affected individuals, parents, and their siblings, if available, were enrolled in the study if they had a p.Pro250Arg mutation in FGFR3. One hundred and six patients from 71 families participated in this study. In 51 informative probands, 33 cases (64.7%) were inherited. Eighty-five percent of the participants had craniosynostosis (16 of 103 did not have craniosynostosis), with 47.5% having bilateral and 28.2% with unilateral synostosis. Females and males were similarly affected with bicoronal craniosynostosis, 50% versus 44.4% (P=0.84), respectively. Clefting was rare (1.1%). Hearing loss was identified in 70.8%, developmental delay in 66.3%, intellectual disability in 35.6%, attention deficit/hyperactivity disorder in 23.7%, and seizures in 20.2%. In patients with complete skeletal surveys (upper and lower extremity x-rays), 75% of individuals were found to have at least a single abnormal radiographical finding in addition to skull findings. This is the largest study of the natural history of Muenke syndrome, adding valuable clinical information to the care of these individuals including behavioral and cognitive impairment data, vision changes, and hearing loss.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Nyckelord
- Muenke syndrome
- FGFR3-related craniosynostosis
- craniosynostosis
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- Av författaren/redakt...
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Kruszka, Paul
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Addissie, Yonit ...
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Yarnell, Colin M ...
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Hadley, Donald W ...
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Guillen Sacoto, ...
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Platte, Petra
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visa fler...
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Paelecke, Yvonne
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Collmann, Hartmu ...
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Snow, Nicole
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Schweitzer, Tilm ...
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Boyadjiev, Simeo ...
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Aravidis, Christ ...
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Hall, Samantha E ...
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Mulliken, John B ...
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Roscioli, Tony
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Muenke, Maximili ...
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Uppsala universitet