Subject(s)
Arthritis, Juvenile/diagnosis , Muscle Weakness/etiology , Adolescent , Arthritis, Juvenile/complications , Child , Child, Preschool , Female , Humans , Male , Movement , PostureABSTRACT
We report a young man with phenotypical features suggestive of Lujan-Fryns syndrome and behaviour of an autistic spectrum disorder, who has a subtle terminal deletion of the short arm of chromosome 5. Individuals reported previously with a similar chromosomal abnormality have had developmental delay and a 'breathy, raspy' voice. It may be appropriate to consider screening patients with a phenotype suggestive of Lujan-Fryns syndrome by fluorescence in situ hybridisation (FISH) using a probe for the subtelomeric region of the short arm of chromosome 5.
Subject(s)
Chromosome Deletion , Chromosomes, Human, Pair 5/genetics , Developmental Disabilities/genetics , Intellectual Disability/genetics , Adolescent , Developmental Disabilities/diagnosis , Humans , In Situ Hybridization, Fluorescence , Intellectual Disability/diagnosis , Karyotyping , Male , Phenotype , SyndromeABSTRACT
OBJECTIVE: To assess the long-term outcome of anterior knee pain diagnosed in childhood. METHOD: Forty-eight patients diagnosed with anterior knee pain in childhood were contacted by postal questionnaire 4-18 yr after initial presentation. RESULTS: The 22 respondents comprised 16 women and six men, with mean age at follow-up of 22 yr. Twenty of 22 (91%) still had knee pains, eight daily, two weekly and 10 occasionally. In 10 (45%) the pain affected their daily life and in eight (36%) it restricted their physical activities. Twelve (54%) used painkillers. Ten (45%) had developed other diagnoses: four had psoriasis and six arthritis, of whom one had ankylosing spondylitis. Fifteen (68%) had symptoms in other joints at follow-up. CONCLUSION: These results suggest that anterior knee pain that occurs in childhood may not be so benign a condition as thought.
