title: An analysis of seven infants with Brachmann-de Lange syndrome, of whom two identical twin sisters.
abstract: An analysis of seven infants with Brachmann-de Lange syndrome, of whom two identical twin sisters: Brachmann-de Lange syndrome (BDLS) is characterized by typical facial features, intrauterine growth retardation, short stature, microbrachycephaly, hirsutism and limb anomalies. Here, we reviewed the findings of seven infants with BDLS, of whom two were identical twin sisters of normal parents. All of the infants' parents were normal, and no consanguinity between the parents was noted although the ratio of consanguineous marriages is very high (21.1%) in Turkey. It is well known that most cases of BDLS are sporadic, some cases of this disorder are inherited in an autosomal dominant trait. Our findings suggested that familial cases of BDLS were infrequent, and vast majority of cases appeared to be sporadic and the occurrence of the syndrome in the identical twin sisters of normal parents was also thought a heterogeneity in this condition, overlapping with other conditions and syndromes as mentioned by Fryns et al.
authors.affiliation: Department of Pediatrics, Yüzüncü Yil University, Faculty of Medicine, Van, Turkey. huseyincaksen@hotmail.com
authors.forename: H
authors.initials: H
authors.lastname: Caksen
authors.forename: S
authors.initials: S
authors.lastname: Kurtoğlu
authors.forename: Y
authors.initials: Y
authors.lastname: Cesur
authors.forename: A
authors.initials: A
authors.lastname: Oztürk
mesh_terms: D003635:De Lange Syndrome / Q000235:genetics / Q000503:physiopathology; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D014430:Twins, Monozygotic