ABSTRACT
We describe three Canadian brothers of Cree origin, with a previously undescribed pattern of malformation including distinctive craniofacial abnormalities with triangular facies, hypertelorism, low-set and posteriorly rotated ears, ocular colobomas, ptosis, brachycephaly with widely separated sutures, cleft soft palate, undescended testes, bifid scrotum and hypospadius, wide webbed neck, webbed fingers, pectus excavatum and hypersegmented sternum, and severe psychomotor retardation. The presence of normal brain imaging and physical growth distinguishes them from other syndromes with overlapping abnormalities. This is either an X-linked or autosomal recessive condition.
Subject(s)
Cleft Palate/pathology , Coloboma/pathology , Craniofacial Abnormalities , Genitalia, Male/abnormalities , Intellectual Disability/pathology , Skull/abnormalities , Abnormalities, Multiple/genetics , Abnormalities, Multiple/pathology , Child, Preschool , Eye Abnormalities , Humans , Infant , Karyotyping , Male , SyndromeABSTRACT
We report on a 28 year-old male with peculiar facies, distal joint contractures and other multiple congenital anomalies. Cytogenetic analysis by G banding revealed a distal tandem interstitial duplication of the long arm of chromosome q6, dup.(6)(6q24.2-->q26). This chromosome abnormality was confirmed by fluorescence in situ hybridization with total chromosome 6 painting. This is probably the second documented case of 6q duplication without growth retardation or severe psychomotor retardation. The clinical findings in our patient are similar to that of whistling face syndrome (WFS) and, in fact, he was diagnosed with WFS as a child. The literature were reviewed and the phenotypic features of this patient were compared with those previously reported for both duplication 6q and whistling face syndromes. There is a significant overlap between the phenotypes of these two syndromes. Careful evaluation of the terminal end of the 6q in cases suggestive of WFS might be warranted.
Subject(s)
Abnormalities, Multiple/genetics , Chromosome Aberrations , Chromosomes, Human, Pair 6 , Growth Disorders/genetics , Intellectual Disability/genetics , Adult , Chromosome Banding , Chromosome Mapping , Contracture/genetics , Face/abnormalities , Humans , In Situ Hybridization, Fluorescence , Karyotyping , Male , SyndromeABSTRACT
We report on a 7-year-old boy with unusual facial features, severe bilateral sensorineural hearing loss, and broad terminal phalanges. These findings are similar to those described by Keipert et al. in two brothers and by Balci and Dagli in two other male siblings. Our patient has, in addition, developmental delay and abnormal behaviour. To the best of our knowledge, this is only the third report of Keipert syndrome.
