The phenotype of Floating–Harbor syndrome in 10 patients
Identifieur interne : 000298 ( Istex/Curation ); précédent : 000297; suivant : 000299The phenotype of Floating–Harbor syndrome in 10 patients
Auteurs : Susan M. White [Australie] ; Angela Morgan [Australie] ; Annette Da Costa [Australie] ; Didier Lacombe [France] ; Samantha J. L. Knight [Royaume-Uni] ; Richard Houlston [Royaume-Uni] ; Margo L. Whiteford [Royaume-Uni] ; Ruth A. Newbury-Ecob [Royaume-Uni] ; Jane A. Hurst [Royaume-Uni]Source :
- American Journal of Medical Genetics Part A [ 1552-4825 ] ; 2010-04.
Descripteurs français
- Wicri :
- topic : Petite enfance, Génétique.
English descriptors
- KwdEn :
- Abnormality, Adult height, Adult heights, Adult life, American journal, Array analysis, Australia department, Behavioral phenotype, Behavioral problems, Biomedical research centre, Birth weight, Body habitus, Case report, Celiac disease, Centile, Centile birth length, Cerebral aneurysm, Clavicular pseudarthrosis, Clinical features, Conductive hearing loss, Consonant imprecision, Current height, Dental problems, Different ages, Dysmorphic features, Dysmorphism, Dysplastic hips, Dyspraxia, Early childhood, Early intervention, Early puberty, Educational reports, Facial, Facial appearance, Facial features, Feingold, Floatingharbor syndrome, Fryns, Genet, Genet part, Genetic health services victoria, Genetics, Growth hormone, Growth hormone treatment, Growth velocity, Hand abnormalities, Hand dysmorphism, Health problems, High frequency, Impairment, Intellectual disability, Intellectual education, Intellectual function, Lacombe, Language disorder, Mainstream, Mainstream school, Medical genetics part, Microarray analysis, Months patient, Motor speech production, Online issue, Original patients, Other reports, Oxford partnership, Patient cohort, Patient group, Peippo, Pharyngeal wall, Phenotype, Precocious puberty, Previous case reports, Previous reports, Puberty, Royal hospital, Same patient, Serial bone, Several patients, Severe disorder, Short palpebral, Short stature, Skeletal abnormalities, Speech delay, Syndrome, Syndrome diagnosis, Typical body habitus, Verbal dyspraxia, Wide mouth, Years patient.
- Teeft :
- Abnormality, Adult height, Adult heights, Adult life, American journal, Array analysis, Australia department, Behavioral phenotype, Behavioral problems, Biomedical research centre, Birth weight, Body habitus, Case report, Celiac disease, Centile, Centile birth length, Cerebral aneurysm, Clavicular pseudarthrosis, Clinical features, Conductive hearing loss, Consonant imprecision, Current height, Dental problems, Different ages, Dysmorphic features, Dysmorphism, Dysplastic hips, Dyspraxia, Early childhood, Early intervention, Early puberty, Educational reports, Facial, Facial appearance, Facial features, Feingold, Floatingharbor syndrome, Fryns, Genet, Genet part, Genetic health services victoria, Genetics, Growth hormone, Growth hormone treatment, Growth velocity, Hand abnormalities, Hand dysmorphism, Health problems, High frequency, Impairment, Intellectual disability, Intellectual education, Intellectual function, Lacombe, Language disorder, Mainstream, Mainstream school, Medical genetics part, Microarray analysis, Months patient, Motor speech production, Online issue, Original patients, Other reports, Oxford partnership, Patient cohort, Patient group, Peippo, Pharyngeal wall, Phenotype, Precocious puberty, Previous case reports, Previous reports, Puberty, Royal hospital, Same patient, Serial bone, Several patients, Severe disorder, Short palpebral, Short stature, Skeletal abnormalities, Speech delay, Syndrome, Syndrome diagnosis, Typical body habitus, Verbal dyspraxia, Wide mouth, Years patient.
Abstract
Floating–Harbor syndrome (FHS) is a rare condition typified by short stature, speech impairment, delayed bone age, and characteristic facies. The diagnosis can be difficult as the facial changes are subtle in infancy, and the features of short stature, delayed speech, and delayed bone age are frequently encountered in clinical practice. We refine the phenotype in FHS by reporting clinical findings in 10 typically affected individuals ranging in age from 7 to 34 years and present a mother and daughter who display some features of FHS. Bone age measurements were delayed when measured from age 6 months to 6 years but in some patients were normal between 6 and 12 years. Dysmorphic features at different ages are characterized. The lateral profile of the face and the characteristic body habitus aided diagnosis. Significant behavioral problems of hyperactivity, short attention span and aggression during childhood were reported for most individuals. The children studied had a severe and incapacitating disorder of speech and language. Intellectual functioning ranged from borderline normal to moderate intellectual disability. Early puberty was noted. Adult heights were 140–155 cm. Microarray analysis in eight of the patients provided no evidence that FHS is caused by a large‐scale copy‐number genomic change. © 2010 Wiley‐Liss, Inc.
Url:
DOI: 10.1002/ajmg.a.33294
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White</name><affiliation wicri:level="1"><mods:affiliation>Genetic Health Services Victoria, Royal Children's Hospital, Parkville, Victoria, Australia</mods:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Genetic Health Services Victoria, Royal Children's Hospital, Parkville, Victoria</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia</mods:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Paediatrics, University of Melbourne, Melbourne, Victoria</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia</mods:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>E-mail: sue.white@ghsv.org.au</mods:affiliation><country wicri:rule="url">Australie</country></affiliation><affiliation wicri:level="1"><mods:affiliation>Correspondence address: Genetic Health Services Victoria, Royal Children's Hospital, Flemington Road, Parkville, Victoria 3052, Australia.</mods:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Correspondence address: Genetic Health Services Victoria, Royal Children's Hospital, Flemington Road, Parkville, Victoria 3052</wicri:regionArea></affiliation></author><author><name sortKey="Morgan, Angela" sort="Morgan, Angela" uniqKey="Morgan A" first="Angela" last="Morgan">Angela Morgan</name><affiliation wicri:level="1"><mods:affiliation>Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia</mods:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Paediatrics, University of Melbourne, Melbourne, Victoria</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia</mods:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria</wicri:regionArea></affiliation></author><author><name sortKey="Da Costa, Annette" sort="Da Costa, Annette" uniqKey="Da Costa A" first="Annette" last="Da Costa">Annette Da Costa</name><affiliation wicri:level="1"><mods:affiliation>Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia</mods:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Plastic and Maxillofacial Surgery, Royal Children's Hospital, Parkville, Victoria, Australia</mods:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Plastic and Maxillofacial Surgery, Royal Children's Hospital, Parkville, Victoria</wicri:regionArea></affiliation></author><author><name sortKey="Lacombe, Didier" sort="Lacombe, Didier" uniqKey="Lacombe D" first="Didier" last="Lacombe">Didier Lacombe</name><affiliation wicri:level="1"><mods:affiliation>Department of Medical Genetics, CHU de Bordeaux, Université de Bordeaux, Bordeaux, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Medical Genetics, CHU de Bordeaux, Université de Bordeaux, Bordeaux</wicri:regionArea></affiliation></author><author><name sortKey="Knight, Samantha J L" sort="Knight, Samantha J L" uniqKey="Knight S" first="Samantha J. 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White</name><affiliation wicri:level="1"><mods:affiliation>Genetic Health Services Victoria, Royal Children's Hospital, Parkville, Victoria, Australia</mods:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Genetic Health Services Victoria, Royal Children's Hospital, Parkville, Victoria</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia</mods:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Paediatrics, University of Melbourne, Melbourne, Victoria</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia</mods:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>E-mail: sue.white@ghsv.org.au</mods:affiliation><country wicri:rule="url">Australie</country></affiliation><affiliation wicri:level="1"><mods:affiliation>Correspondence address: Genetic Health Services Victoria, Royal Children's Hospital, Flemington Road, Parkville, Victoria 3052, Australia.</mods:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Correspondence address: Genetic Health Services Victoria, Royal Children's Hospital, Flemington Road, Parkville, Victoria 3052</wicri:regionArea></affiliation></author><author><name sortKey="Morgan, Angela" sort="Morgan, Angela" uniqKey="Morgan A" first="Angela" last="Morgan">Angela Morgan</name><affiliation wicri:level="1"><mods:affiliation>Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia</mods:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Paediatrics, University of Melbourne, Melbourne, Victoria</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia</mods:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria</wicri:regionArea></affiliation></author><author><name sortKey="Da Costa, Annette" sort="Da Costa, Annette" uniqKey="Da Costa A" first="Annette" last="Da Costa">Annette Da Costa</name><affiliation wicri:level="1"><mods:affiliation>Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia</mods:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Plastic and Maxillofacial Surgery, Royal Children's Hospital, Parkville, Victoria, Australia</mods:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Plastic and Maxillofacial Surgery, Royal Children's Hospital, Parkville, Victoria</wicri:regionArea></affiliation></author><author><name sortKey="Lacombe, Didier" sort="Lacombe, Didier" uniqKey="Lacombe D" first="Didier" last="Lacombe">Didier Lacombe</name><affiliation wicri:level="1"><mods:affiliation>Department of Medical Genetics, CHU de Bordeaux, Université de Bordeaux, Bordeaux, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Medical Genetics, CHU de Bordeaux, Université de Bordeaux, Bordeaux</wicri:regionArea></affiliation></author><author><name sortKey="Knight, Samantha J L" sort="Knight, Samantha J L" uniqKey="Knight S" first="Samantha J. L." last="Knight">Samantha J. L. Knight</name><affiliation wicri:level="1"><mods:affiliation>Oxford Partnership Comprehensive Biomedical Research Centre, Wellcome Trust Centre for Human Genetics, University of Oxford, UK</mods:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Oxford Partnership Comprehensive Biomedical Research Centre, Wellcome Trust Centre for Human Genetics, University of Oxford</wicri:regionArea></affiliation></author><author><name sortKey="Houlston, Richard" sort="Houlston, Richard" uniqKey="Houlston R" first="Richard" last="Houlston">Richard Houlston</name><affiliation wicri:level="1"><mods:affiliation>Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, UK</mods:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey</wicri:regionArea></affiliation></author><author><name sortKey="Whiteford, Margo L" sort="Whiteford, Margo L" uniqKey="Whiteford M" first="Margo L." last="Whiteford">Margo L. Whiteford</name><affiliation wicri:level="1"><mods:affiliation>Ferguson‐Smith Centre for Clinical Genetics, Yorkhill Hospital, Glasgow, Scotland, UK</mods:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Ferguson‐Smith Centre for Clinical Genetics, Yorkhill Hospital, Glasgow, Scotland</wicri:regionArea></affiliation></author><author><name sortKey="Newbury Cob, Ruth A" sort="Newbury Cob, Ruth A" uniqKey="Newbury Cob R" first="Ruth A." last="Newbury-Ecob">Ruth A. Newbury-Ecob</name><affiliation wicri:level="1"><mods:affiliation>Bristol Royal Hospital for Children, St Michaels Hospital, Bristol, UK</mods:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Bristol Royal Hospital for Children, St Michaels Hospital, Bristol</wicri:regionArea></affiliation></author><author><name sortKey="Hurst, Jane A" sort="Hurst, Jane A" uniqKey="Hurst J" first="Jane A." last="Hurst">Jane A. Hurst</name><affiliation wicri:level="1"><mods:affiliation>Oxford Clinical Genetics Service, Oxford Radcliffe Hospitals, Oxford, UK</mods:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Oxford Clinical Genetics Service, Oxford Radcliffe Hospitals, Oxford</wicri:regionArea></affiliation></author></analytic><monogr></monogr><series><title level="j" type="main">American Journal of Medical Genetics Part A</title><title level="j" type="alt">AMERICAN JOURNAL OF MEDICAL GENETICS</title><idno type="ISSN">1552-4825</idno><idno type="eISSN">1552-4833</idno><imprint><biblScope unit="vol">152A</biblScope><biblScope unit="issue">4</biblScope><biblScope unit="page" from="821">821</biblScope><biblScope unit="page" to="829">829</biblScope><biblScope unit="page-count">9</biblScope><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2010-04">2010-04</date></imprint><idno type="ISSN">1552-4825</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">1552-4825</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Abnormality</term><term>Adult height</term><term>Adult heights</term><term>Adult life</term><term>American journal</term><term>Array analysis</term><term>Australia department</term><term>Behavioral phenotype</term><term>Behavioral problems</term><term>Biomedical research centre</term><term>Birth weight</term><term>Body habitus</term><term>Case report</term><term>Celiac disease</term><term>Centile</term><term>Centile birth length</term><term>Cerebral aneurysm</term><term>Clavicular pseudarthrosis</term><term>Clinical features</term><term>Conductive hearing loss</term><term>Consonant imprecision</term><term>Current height</term><term>Dental problems</term><term>Different ages</term><term>Dysmorphic features</term><term>Dysmorphism</term><term>Dysplastic hips</term><term>Dyspraxia</term><term>Early childhood</term><term>Early intervention</term><term>Early puberty</term><term>Educational reports</term><term>Facial</term><term>Facial appearance</term><term>Facial features</term><term>Feingold</term><term>Floatingharbor syndrome</term><term>Fryns</term><term>Genet</term><term>Genet part</term><term>Genetic health services victoria</term><term>Genetics</term><term>Growth hormone</term><term>Growth hormone treatment</term><term>Growth velocity</term><term>Hand abnormalities</term><term>Hand dysmorphism</term><term>Health problems</term><term>High frequency</term><term>Impairment</term><term>Intellectual disability</term><term>Intellectual education</term><term>Intellectual function</term><term>Lacombe</term><term>Language disorder</term><term>Mainstream</term><term>Mainstream school</term><term>Medical genetics part</term><term>Microarray analysis</term><term>Months patient</term><term>Motor speech production</term><term>Online issue</term><term>Original patients</term><term>Other reports</term><term>Oxford partnership</term><term>Patient cohort</term><term>Patient group</term><term>Peippo</term><term>Pharyngeal wall</term><term>Phenotype</term><term>Precocious puberty</term><term>Previous case reports</term><term>Previous reports</term><term>Puberty</term><term>Royal hospital</term><term>Same patient</term><term>Serial bone</term><term>Several patients</term><term>Severe disorder</term><term>Short palpebral</term><term>Short stature</term><term>Skeletal abnormalities</term><term>Speech delay</term><term>Syndrome</term><term>Syndrome diagnosis</term><term>Typical body habitus</term><term>Verbal dyspraxia</term><term>Wide mouth</term><term>Years patient</term></keywords><keywords scheme="Teeft" xml:lang="en"><term>Abnormality</term><term>Adult height</term><term>Adult heights</term><term>Adult life</term><term>American journal</term><term>Array analysis</term><term>Australia department</term><term>Behavioral phenotype</term><term>Behavioral problems</term><term>Biomedical research centre</term><term>Birth weight</term><term>Body habitus</term><term>Case report</term><term>Celiac disease</term><term>Centile</term><term>Centile birth length</term><term>Cerebral aneurysm</term><term>Clavicular pseudarthrosis</term><term>Clinical features</term><term>Conductive hearing loss</term><term>Consonant imprecision</term><term>Current height</term><term>Dental problems</term><term>Different ages</term><term>Dysmorphic features</term><term>Dysmorphism</term><term>Dysplastic hips</term><term>Dyspraxia</term><term>Early childhood</term><term>Early intervention</term><term>Early puberty</term><term>Educational reports</term><term>Facial</term><term>Facial appearance</term><term>Facial features</term><term>Feingold</term><term>Floatingharbor syndrome</term><term>Fryns</term><term>Genet</term><term>Genet part</term><term>Genetic health services victoria</term><term>Genetics</term><term>Growth hormone</term><term>Growth hormone treatment</term><term>Growth velocity</term><term>Hand abnormalities</term><term>Hand dysmorphism</term><term>Health problems</term><term>High frequency</term><term>Impairment</term><term>Intellectual disability</term><term>Intellectual education</term><term>Intellectual function</term><term>Lacombe</term><term>Language disorder</term><term>Mainstream</term><term>Mainstream school</term><term>Medical genetics part</term><term>Microarray analysis</term><term>Months patient</term><term>Motor speech production</term><term>Online issue</term><term>Original patients</term><term>Other reports</term><term>Oxford partnership</term><term>Patient cohort</term><term>Patient group</term><term>Peippo</term><term>Pharyngeal wall</term><term>Phenotype</term><term>Precocious puberty</term><term>Previous case reports</term><term>Previous reports</term><term>Puberty</term><term>Royal hospital</term><term>Same patient</term><term>Serial bone</term><term>Several patients</term><term>Severe disorder</term><term>Short palpebral</term><term>Short stature</term><term>Skeletal abnormalities</term><term>Speech delay</term><term>Syndrome</term><term>Syndrome diagnosis</term><term>Typical body habitus</term><term>Verbal dyspraxia</term><term>Wide mouth</term><term>Years patient</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Petite enfance</term><term>Génétique</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Floating–Harbor syndrome (FHS) is a rare condition typified by short stature, speech impairment, delayed bone age, and characteristic facies. The diagnosis can be difficult as the facial changes are subtle in infancy, and the features of short stature, delayed speech, and delayed bone age are frequently encountered in clinical practice. We refine the phenotype in FHS by reporting clinical findings in 10 typically affected individuals ranging in age from 7 to 34 years and present a mother and daughter who display some features of FHS. Bone age measurements were delayed when measured from age 6 months to 6 years but in some patients were normal between 6 and 12 years. Dysmorphic features at different ages are characterized. The lateral profile of the face and the characteristic body habitus aided diagnosis. Significant behavioral problems of hyperactivity, short attention span and aggression during childhood were reported for most individuals. The children studied had a severe and incapacitating disorder of speech and language. Intellectual functioning ranged from borderline normal to moderate intellectual disability. Early puberty was noted. Adult heights were 140–155 cm. Microarray analysis in eight of the patients provided no evidence that FHS is caused by a large‐scale copy‐number genomic change. © 2010 Wiley‐Liss, Inc.</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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