Ring chromosome 9 syndrome

Ring chromosome 9 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including developmental delay, some degree of intellectual disability, facial dysmorphism, microcephaly, congenital heart anomalies, and variable genital, limb and skeletal anomalies.

Hypotelorism

Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes).


Total: 2

                       


(per page)
PMID (PMCID)
10486077
 FEMALE Infant, Newborn
Ring chromosome 9 with a 9p22.3-p24.3 duplication.
Seghezzi L, Maraschio P, Bozzola M, Maserati E, Tupler R, Marchi A, Tiepolo L.
Eur J Pediatr. 1999;158(10):791-3.
A ring chromosome 9 containing an inverted 9p22.3-p24.3 duplication was found in a girl presenting with some of the phenotypic characteristics of ring 9 syndrome such as trigonocephaly, microcephaly, hypotelorism, micrognathia, single palmar crease, and bilateral clinodactyly.
10486077
 FEMALE Infant, Newborn
Ring chromosome 9 with a 9p22.3-p24.3 duplication.
Seghezzi L, Maraschio P, Bozzola M, Maserati E, Tupler R, Marchi A, Tiepolo L.
Eur J Pediatr. 1999;158(10):791-3.
A ring chromosome 9 containing an inverted 9p22.3-p24.3 duplication was found in a girl presenting with some of the phenotypic characteristics of ring 9 syndrome such as trigonocephaly, microcephaly, hypotelorism, micrognathia, single palmar crease, and bilateral clinodactyly.