ISSN:
1432-1076
Keywords:
Key words Chromosome deletion
;
Blepharophimosis
;
ptosis
;
epicanthus inversus and telecanthus syndrome
;
Congenital laryngostenosis
;
Feeding difficulties
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Abstract Common clinical features of patients with 3q23 deletion include the phenotype of BPES (blepharophimosis, ptosis, epicanthus inversus and telecanthus syndrome), growth and mental retardation, microcephaly, ear and nose dysmorphism and joint and digit abnormalities. We report on a 3-year-old girl with the phenotype of BPES, mental retardation, facial dysmorphism and camptodactyly. In addition, she had a congenitally small larynx and severe, chronic feeding difficulties. Chromosome studies revealed an interstitial deletion in the long arm of chromosome 3: del(3)(q23-q25) Conclusion Congenital laryngostenosis and severe feeding problems may be part of the clinical syndrome caused by chromosome 3q23 deletion.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/s004310050681
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