AustralieFrV1, Main, Merge, bibRecord, 007A20

The Phenotype of Floating-Harbor Syndrome in 10 Patients

Identifieur interne : 007A20 ( Main/Merge ); précédent : 007A19; suivant : 007A21

The 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.

RBID : Pascal:10-0190068

Descripteurs français

Pascal (Inist)
- Retard langage, Phénotype, Homme, Malade, Retard staturopondéral.
Wicri :
- topic : Homme.

English descriptors

KwdEn :
- Growth retardation, Human, Language retardation, Patient, Phenotype.

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.

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Le document en format XML

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<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.</div>
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<country name="France"><region name="Nouvelle-Aquitaine"><name sortKey="Lacombe, Didier" sort="Lacombe, Didier" uniqKey="Lacombe D" first="Didier" last="Lacombe">Didier Lacombe</name>
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The Phenotype of Floating-Harbor Syndrome in 10 Patients

The Phenotype of Floating-Harbor Syndrome in 10 Patients

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Descripteurs français

English descriptors

Abstract

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