title: Extended survival in a new case of ter Haar syndrome: further delineation of the syndrome.
abstract: We present a boy followed from age 5-13 years who is the fifth reported case of ter Haar syndrome. This is a recently-named entity comprising congenital glaucoma, hypertelorism, congenital heart defects and kyphoscoliosis, skeletal dysplasia, and developmental delay. These patients were originally thought to have an autosomal-recessive form of Melnick-Needles syndrome, and were only identified as having a distinct syndrome with the report of the fourth case. Probable autosomal-recessive inheritance is based on consanguinity in 4 of 5 cases. Ocular, cardiac, and craniofacial findings distinguish ter Haar syndrome as a distinct entity. Our patient is the longest survivor at present, suggesting that there is heterogeneity in this syndrome or, alternatively, that aggressive therapy of the congenital heart defects has significant effect.
authors.affiliation: Division of Medical Genetics, Alfred I. DuPont Institute, Wilmington, Delaware, USA.
authors.forename: R
authors.initials: R
authors.lastname: Wallerstein
authors.forename: C I
authors.initials: CI
authors.lastname: Scott
authors.forename: L
authors.initials: L
authors.lastname: Nicholson
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology*; D000293:Adolescent; D001842:Bone and Bones / Q000002:abnormalities; D002648:Child; D002675:Child, Preschool; D002658:Developmental Disabilities / Q000473:pathology; D005901:Glaucoma / Q000151:congenital; D006330:Heart Defects, Congenital / Q000473:pathology; D006801:Humans; D006972:Hypertelorism / Q000473:pathology; D008297:Male; D012600:Scoliosis / Q000473:pathology; D017741:Survivors; D013577:Syndrome