Shprintzen–Goldberg craniosynostosis syndrome (SGS) is a rare autosomal dominant condition that was first documented in literature in 1982. The disorder is caused by pathogenic variants in the ...proto-oncogene SKI gene, a known suppressor of TGF-β activity, located on chromosome 1p36. There is considerable phenotypic overlap with Marfan and Loeys–Dietz syndromes. Common clinical features of SGS include craniosynostosis, marfanoid habitus, hypotonia, dysmorphic facies, cardiovascular anomalies, and other skeletal and connective tissue abnormalities. Ocular manifestations may include hypertelorism, downslanting palpebral fissures, proptosis, myopia, and ectopia lentis. We describe a 25-year-old male with the syndrome. Genetic analysis revealed a novel c.350G>A (p.Arg117His) de novo variant, which was predicted to be pathogenic by the CTGT laboratory. The patient presented with dysmorphic features, marfanoid habitus, severe joint contractures, mitral valve insufficiency, aortic root dilatation, and a history of seizures. His ocular manifestations included hypertelorism, downslanting palpebral fissures, bilateral ptosis, and high myopia. Ophthalmic manifestations are an integral component of the syndrome; however, they have not been well characterized in the literature. From a systematic review of previously published cases to date, we summarize the eye and ocular adnexa manifestations reported.
A genetic perspective on infant mortality Causey, Tahnee N; Bodurtha, Joann N; Ford, Nancy
Southern medical journal (Birmingham, Ala.),
05/2010, Letnik:
103, Številka:
5
Journal Article
Recenzirano
Despite significant advances in perinatal and neonatal medicine, infant mortality (IM) remains a significant public health problem. The causes of IM are complex, numerous, and a result of interacting ...genetic and environmental factors. This paper explores genetic contributions to IM using data from Virginia. Leading causes of IM in Virginia are disorders of prematurity/low birth weight, congenital anomalies, and sudden infant death syndrome (SIDS). Recognized single gene disorders as well as genetic polymorphisms are discussed in relation to their role in IM. While preconceptional prevention from a genetic standpoint may not currently be possible, this paper provides clinicians with information on identifying women at highest risk for IM and those in need of additional surveillance and intervention. Suggestions for simple health messages to provide to women of child-bearing age to decrease the risks for birth defects and obstetrical/perinatal complications resulting in IM are also discussed.
Shprintzen-Goldberg craniosynostosis syndrome (SGS) is a rare autosomal dominant condition that was first documented in literature in 1982. The disorder is caused by pathogenic variants in the ...proto-oncogene
gene, a known suppressor of TGF-
activity, located on chromosome 1p36. There is considerable phenotypic overlap with Marfan and Loeys-Dietz syndromes. Common clinical features of SGS include craniosynostosis, marfanoid habitus, hypotonia, dysmorphic facies, cardiovascular anomalies, and other skeletal and connective tissue abnormalities. Ocular manifestations may include hypertelorism, downslanting palpebral fissures, proptosis, myopia, and ectopia lentis. We describe a 25-year-old male with the syndrome. Genetic analysis revealed a novel c.350G>A (p.Arg117His)
variant, which was predicted to be pathogenic by the CTGT laboratory. The patient presented with dysmorphic features, marfanoid habitus, severe joint contractures, mitral valve insufficiency, aortic root dilatation, and a history of seizures. His ocular manifestations included hypertelorism, downslanting palpebral fissures, bilateral ptosis, and high myopia. Ophthalmic manifestations are an integral component of the syndrome; however, they have not been well characterized in the literature. From a systematic review of previously published cases to date, we summarize the eye and ocular adnexa manifestations reported.
PDF
