BACKGROUND: Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is an autosomal dominant condition mapped to chromosome 3q23. There are several reports of chromosomal abnormalities involving this region with a resultant phenotype that includes BPES. METHOD: We reassessed two unrelated boys ages 3 and 5 with BPES and associated nonocular abnormalities. Karyotype, which had been previously reported as normal, was repeated using high-resolution banding techniques, to look specifically at 3q23. Clinical findings were tabulated and compared with previously reported cases. RESULTS: Both patients proved to have interstitial deletions of chromosome 3, the first involving bands q22.2q25.1 and the second q22.2q24. The first patient exhibited prenatal and postnatal growth retardation, with global developmental delay, while the second patient had normal growth and development except for speech delay. Both had dysmorphic facies with BPES, flat philtrum, a thin upper lip, and small chin. In addition, the first boy had an inguinal hernia and hypospadius; the second boy had abnormal auricles and metatarsus adductus. The eight cases of interstitial deletions of 3q2 and six rearrangements involving this region have a remarkably similar phenotype. CONCLUSIONS: Deletion of 3q23 is a recognizable contiguous gene syndrome. Microdeletions of 3q23 should be ruled out in any sporadic case of BPES especially if there are associated nonocular abnormalities.
BACKGROUND: Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is an autosomal dominant condition mapped to chromosome 3q23. There are several reports of chromosomal abnormalities involving this region with a resultant phenotype that includes BPES. METHOD: We reassessed two unrelated boys ages 3 and 5 with BPES and associated nonocular abnormalities. Karyotype, which had been previously reported as normal, was repeated using high-resolution banding techniques, to look specifically at 3q23. Clinical findings were tabulated and compared with previously reported cases. RESULTS: Both patients proved to have interstitial deletions of chromosome 3, the first involving bands q22.2q25.1 and the second q22.2q24. The first patient exhibited prenatal and postnatal growth retardation, with global developmental delay, while the second patient had normal growth and development except for speech delay. Both had dysmorphic facies with BPES, flat philtrum, a thin upper lip, and small chin. In addition, the first boy had an inguinal hernia and hypospadius; the second boy had abnormal auricles and metatarsus adductus. The eight cases of interstitial deletions of 3q2 and six rearrangements involving this region have a remarkably similar phenotype. CONCLUSIONS: Deletion of 3q23 is a recognizable contiguous gene syndrome. Microdeletions of 3q23 should be ruled out in any sporadic case of BPES especially if there are associated nonocular abnormalities.
Authors: Hung-Chun Yu; Elizabeth A Geiger; Livija Medne; Elaine H Zackai; Tamim H Shaikh Journal: Am J Med Genet A Date: 2014-01-23 Impact factor: 2.802