Ter Haar syndrome

01/01/2012 - "Frank-ter Haar syndrome is a rare disorder associated with skeletal, cardiac, ocular and craniofacial features including hypertelorism and brachycephaly. "
12/01/2004 - "The combination of the symptoms megalocornea, multiple skeletal anomalies, and developmental delay was first recognized as a separate entity by Frank et al. and subsequently confirmed by ter Haar et al. The main characteristics are brachycephaly, wide fontanels, prominent forehead, hypertelorism, prominent eyes, macrocornea with or without glaucoma, full cheeks, small chin, bowing of the long bones, and flexion deformity of the fingers. "
02/12/2010 - "Frank-Ter Haar syndrome (FTHS), also known as Ter Haar syndrome, is an autosomal-recessive disorder characterized by skeletal, cardiovascular, and eye abnormalities, such as increased intraocular pressure, prominent eyes, and hypertelorism. "

04/01/2014 - "Childhood glaucoma may be associated with Frank-Ter Haar syndrome. "
04/01/2014 - "Congenital glaucoma as an ophthalmic manifestation of Frank-Ter Haar syndrome."
04/01/2011 - "Mutations in SH3PXD2B cause Frank-Ter Haar syndrome, a rare condition characterized by congenital glaucoma, as well as craniofacial, skeletal, and cardiac anomalies. "
12/01/2004 - "The combination of the symptoms megalocornea, multiple skeletal anomalies, and developmental delay was first recognized as a separate entity by Frank et al. and subsequently confirmed by ter Haar et al. The main characteristics are brachycephaly, wide fontanels, prominent forehead, hypertelorism, prominent eyes, macrocornea with or without glaucoma, full cheeks, small chin, bowing of the long bones, and flexion deformity of the fingers. "

01/01/2012 - "The possibility of craniosynostosis should be considered in individuals with a suspected diagnosis of Frank-ter Haar syndrome."
01/01/2012 - "The clinical features of craniosynostosis and raised intracranial pressure in this family with a confirmed diagnosis of Frank-ter Haar syndrome expand the clinical spectrum of the disease. "
01/01/2012 - "Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure."
01/01/2012 - "The most common underlying genetic defect in Frank-ter Haar syndrome appears to be a mutation in the SH3PXD2B gene on chromosome 5q35.1. Craniosynostosis, or premature fusion of the calvarial sutures, has not previously been described in Frank-ter Haar syndrome. "
01/01/2012 - "Frank-ter Haar syndrome is a rare disorder associated with skeletal, cardiac, ocular and craniofacial features including hypertelorism and brachycephaly. "

04/10/1995 - "Autosomal recessive Melnick-Needles syndrome or ter Haar syndrome? "

07/01/2003 - "There are similarities to ter Haar syndrome, but severe mental retardation has not been described previously in that condition."