Abstract
An Arab child is presented herein with a phenotype that fits the rare Baraitser–Winter syndrome. Her clinical features included a unilateral iris coloboma, ptosis, hypertelorism, epicanthic folds, broad nasal bridge, full cheeks, pointed chin, low set abnormal ears and short neck. In addition, she had cardiac defect, previously undescribed brain anomaly, seizures, hypotonia and developmental delay. Chromosomal analysis of the peripheral lymphocytes and FISH study revealed a normal 46, XX karyotype. To date, Baraitser–Winter syndrome has only been reported in 19 patients of different ethnic families. The present case adds a new finding to the spectrum of malformations published before.
Highlights
Baraitser–Winter syndrome (OMIM 243310); was first described in sibs of unrelated parents as a combination of iris coloboma, bilateral ptosis, hypertelorism, broad nasal bridge, prominent epicanthic folds, growth and mental retardation [1]
19 more cases had been reported showing characteristic clinical features resembling that of Baraitser–Winter
The combinations of the iris coloboma, ptosis, hypertelorism, broad nasal bridge, epicanthic folds, growth and mental retardation were considered as a distinct syndrome, first
Summary
Baraitser–Winter syndrome (OMIM 243310); was first described in sibs of unrelated parents as a combination of iris coloboma, bilateral ptosis, hypertelorism, broad nasal bridge, prominent epicanthic folds, growth and mental retardation [1]. 19 more cases had been reported showing characteristic clinical features resembling that of Baraitser–Winter. Peer review under responsibility of Ain Shams University. The phenotypic spectrum had been broadened including; microcornea, microphthalmia, microcephaly, trigonocephaly, gyral malformation, seizures, hypotonia, cardiac, urogenital, and skeletal defects. It has been postulated that mutation in the PAX-8 gene, which maps to 2q12–q14, may be responsible for the malformations in this syndrome [8]. This was because of the two cases that had been reported with pericentric inversions of chromosome 2; involving 2p12–q14, which were inherited from phenotypically normal mothers [2,3]. The presence of affected siblings in two of the previously reported families [1,10], supported by the familial consanguinity in other reports [4,10], suggested an autosomal recessive inheritance
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
