The phenotype of Floating-Harbor syndrome in 10 patients.
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.
White
Susan M
SM
Genetic Health Services Victoria, Royal Children's Hospital, Parkville, Victoria, Australia. sue.white@ghsv.org.au
Morgan
Angela
A
Da Costa
Annette
A
Lacombe
Didier
D
Knight
Samantha J L
SJ
Houlston
Richard
R
Whiteford
Margo L
ML
Newbury-Ecob
Ruth A
RA
Hurst
Jane A
JA
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000473:pathology*; D000293:Adolescent; D000328:Adult; D000365:Age Determination by Skeleton; D001519:Behavior; D001842:Bone and Bones / Q000002:abnormalities; D002648:Child; D004522:Educational Status; D019066:Facies; D005260:Female; D006130:Growth Disorders / Q000150:complications / Q000175:diagnosis; D006801:Humans; D008607:Intellectual Disability / Q000150:complications / Q000175:diagnosis; D007805:Language Development Disorders / Q000150:complications / Q000175:diagnosis; D008297:Male; D010641:Phenotype; D011627:Puberty; D012098:Reproduction; D013064:Speech Disorders / Q000150:complications / Q000175:diagnosis; D013577:Syndrome; D055815:Young Adult