INTRODUCTION We report the case of an unusual association of Coffin-Siris syndrome with Mayer-Rokitansky-Küster-Hauser syndrome. This association has never previously been reported in the medical literature. CASE PRESENTATION A nine-year-old Indian girl was referred to our hospital for growth retardation, mental retardation, lax joints, generalized hypertrichosis, and hypoplastic fifth finger...

Coffin-Lowry syndrome (CLS, MIM # 303600) is a rare X-linked semi-dominant mental retardation disorder (XLMR). It was first reported independently by Coffin et al. [1] and Lowry et al. [2] and recognized as a novel syndrome of neurocognitive impairment, growth retardation, facial dysmorphism, puffy proximal digits, tapering digits and progressive skeletal changes by Temtamy et al. [3] in 1975. ...

We report a white female infant with typical features of Coffin-Siris syndrome including thick eyebrows, flat nasal bridge, anteverted, wide nose tip, generalised hypertrichosis, scalp hypotrichosis, absence of the fifth fingernails and toenails, absence of the distal phalanges of the fifth fingers and of the second to fifth toes, small patellae, inguinal hernia, and sucking and feeding difficu...

In 1970 Coffin and Siris described three unrelated female children with severe mental and developmental retardation, sparse scalp hair, and coarse appearing facies with bushy eyebrows, a wide mouth, and thick lips. There were, in addition, lax joints and brachydactyly of the fifth digits of both hands and feet with absence of the nails and terminal phalanges.' To our knowledge, there have been ...

REASONS FOR PERFORMING STUDY Whereas the effect of heel configuration on the tension of the suspensory apparatus is well documented in the literature, there are few reports of joint contact force components in the equine distal forelimb. OBJECTIVES To improve understanding of the effect of heel configuration on equine digit joint loading, a sensitivity analysis was performed to compare the ef...

Northern forests are important ecosystems for carbon (C) cycling and lakes within them process and bury large amounts of organic-C. Current burial estimates are poorly constrained and may discount other shifts in organic-C burial driven by global change. Here we analyse a suite of northern lakes to determine trends in organic-C burial throughout the Anthropocene. We found burial rates increased...