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KBG syndrome is characterized by short stature, distinctive facial features, and developmental/cognitive delay and is caused by mutations in ANKRD11, one of the ankyrin repeat‐containing cofactors. We describe 32 KBG patients aged 2–47 years from 27 families ascertained via two pathways: targeted ANKRD11 sequencing (TS) in a group who had a clinical diagnosis of KBG and whole exome sequencing (ES) in a second group in whom the diagnosis was unknown. Speech delay and learning difficulties were almost universal and variable behavioral problems frequent. Macrodontia of permanent upper central incisors was seen in 85%. Other clinical features included short stature, conductive hearing loss, recurrent middle ear infection, palatal abnormalities, and feeding difficulties. We recognized a new feature of a wide anterior fontanelle with delayed closure in 22%. The subtle facial features of KBG syndrome were recognizable in half the patients. We identified 20 ANKRD11 mutations (18 novel: all truncating) confirmed by Sanger sequencing in 32 patients. Comparison of the two ascertainment groups demonstrated that facial/other typical features were more subtle in the ES group. There were no conclusive phenotype–genotype correlations. Our findings suggest that mutation of ANKRD11 is a common Mendelian cause of developmental delay. Affected patients may not show the characteristic KBG phenotype and the diagnosis is therefore easily missed. We propose updated diagnostic criteria/clinical recommendations for KBG syndrome and suggest that inclusion of ANKRD11 will increase the utility of gene panels designed to investigate developmental delay. © 2016 The Authors. American Journal of Medical Genetics Part A Published by Wiley Periodicals, Inc.

Ok, so, I get it, I’m an ornament, a bit of decoration, an objet d’art, if you will, and I know this is a pretty sorry existence for a fine bit of battle gear like myself, but I tell you what: I been around a damned long time, and this is the best stretch I’ve had. I mean, when I first sprang out of that guy’s head, I thought this was going to be fan-frickin-tastic. All day, bash this ram, bash that ram, the satisfying, hollow knock of horn on horn, and it was like that for a while, but then, turns out the fella I’m strapped to, well, he ain’t exactly the alpha male, if you know what I’m talking about. So, when we’re just little lambs, knocking around, it’s good fun, but then we’re getting hammered pretty good, and spending more and more time lurking at the edge of the flock, munching grass on our lonesome. No fun, that. And then, bam! Like a clap of thunder, and there’s this searing pain, and then I can’t see a damned thing, because, it turns out, I’m lying in the tall grass, broken off. Ages, sitting there, doing nothing, listing to the flock braying softly in the distance. Never did find out what happened to my ram. Then, one day, hey, something’s happening! Great! I’m picked up, handled carefully, and I think things are maybe on the up and up, but then, out of nowhere, this guy pulls out a freaking drill, and starts boring a hole straight through me!

Hey, Beachcomber: Pick me up.I’m worth it. Look, I was a brass key when that really meant something. Brass. No stars or leopard print or any of that stupid shit. You had to be cut back then, held up to the original, proofed for fit. It mattered. I was a blank, then the old guy dragged himself to the back of the hardware store and ground me down.Tell me a plastic card has the charm. Tell me you can wear that piece of trash on a chain around your neck or leave it under a rock by the beach for that woman you sent the letter. So what if she never came. You get what I’m saying? Can’t you see that I’m the REAL THING? Just pick me up — my lock still works . . .I know it. I can feel it.

This is the first of two Things from the Sea collected in October 2014 at the Third Biennial BABEL meeting, On the Beach. This first thing, Walk on the Beach, catalogues the Material Collective’s session+flash-exhibition, an experiment in collecting and curation. The next thing, Sea Monsters, will include the papers from the session “The Nature of the Beast/Beasts of Nature: Monstrous Environments.”

This volume brings together writing and imagery from the experimental “beachwalk” session(s) at the Third Biennial Meeting of the BABEL Working Group, On the Beach: Precariousness, Risk, Forms of Life, Affinity, and Play at the Edge of the World. We began with conversations about the sea. We meditated together on chance, discovery, agency, beauty, and material ecology. We talked about the delicate care of treading the world, the confluence of the personal and the professional, and the possibilities of storytelling. We thought about what happens when we encounter stuff, when we take it, change it, do something with it. When we display it, or sculpt it, or collect it. When we make something an object, and an object of looking. Then we met on the beach. We walked and talked about loss, home, agency, and liminality. We collected things: We picked up stones, feathers, seaweed. We pointed to stuff, gathered it, let it strike our fancy. Every shell nurtured a conversation among the artists, scientists, historians, poets, archivists, surfers, philosophers, and pirates who had joined the walk. We brought the sea-things back, manipulated them, and displayed them as works of art. Walk on the Beach is a souvenir of that project, a record of our bounty. It emerges from the process at the heart of art historical work: close looking. Thinking through objects, thinking with objects. Letting the things help us tell their stories. This is a tiny collection of looking, together

When Augustine combed the beach at Utica he discovered on that receding shore the tooth of a mammoth, which he mistook for a giant’s molar. He committed to parchment a reverie about his find, a story of vast humans and time out of memory, but the tooth he hurled back into the sea. Currents moved the thing from Africa to India, then around the jutting coasts of Europe. Because a saint had once grasped the tooth, the object cannot erode. It has over time diminished, however, and when discovered along the Thames held no narrative of woolly beasts or primordial giants or a holy man walking the beach and dreaming theology.

In the beginning, I was much larger. I was born in the hot depths of the earth. Cool-ing slowly, I became solid, white, and speckled. I was a layer of the earth for a long time until the ice came, gouging a hole through my middle and splitting me into huge boulders. I became we. We traveled together beneath the sheet of ice, becoming smoother and rounder as we rubbed against one another. By the time we reached the sea we were with many other stones — some white like us, some reddish, some very gray. The ice plunged us into the sea before melting away. Years and years passed and I was rolled back and forth, back and forth in the water, I became smaller and rounder, smaller and rounder. With every storm, we were mixed more and more with the other stones. Some times I would end up far out to sea, other times I would be washed ashore. I’ve been picked up by human hands many times. People admired my roundness, my whiteness, but they always put me back, or balanced me on one of my fellow stones, making tiny, ephemeral towers. But the last person kept me and took me away from the sea. For now, at least, I no longer roll with the other rocks and the waves.